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Catalog Number: (BOSSBS-9014R-A555)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-CY5.5)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-CY7)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-6325R-A750)
Supplier: Bioss
Description: Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterised by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-6325R-A488)
Supplier: Bioss
Description: Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12345R-A350)
Supplier: Bioss
Description: HEM1 is a 1,127 amino acid single-pass membrane protein that localizes to the cytoplasmic side of the cell membrane. One of several members of the highly conserved HEM family of tissue-specific transmembrane proteins, HEM1 is expressed in cells of hematopoietic origin where it is thought to play an important role in oogenesis. The gene encoding HEM1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-6325R-HRP)
Supplier: Bioss
Description: Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-6325R-A350)
Supplier: Bioss
Description: Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-HRP)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-A680)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterised by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-CY3)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-6325R-FITC)
Supplier: Bioss
Description: Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-A750)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterised by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-CY5)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9014R-FITC)
Supplier: Bioss
Description: EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid protein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical for recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events.
UOM: 1 * 100 µl


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Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us at +43 1 97002 - 0.
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