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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-12345R-A555)
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-12345R-A647)
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-12345R-A488)
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-12345R-FITC)
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-12345R-CY7)
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-12345R-HRP)
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-11296R-CY5)
Supplier: Bioss
Description: 17Beta-HSD4 (17Beta-hydroxysteroid dehydrogenase type 4) is also known as peroxisomal multifunctional enzyme/protein 2 (MFE-2/MFP-2), D-bifunctional enzyme or 17-Beta Estradiol dehydrogenase type IV. It belongs to the 17Beta-HSD family of proteins that regulate the availability of steroids within various tissues throughout the body. 17Beta-HSD4 inactivates Estradiol through its oxidative activity but it is primarily involved in peroxisomal fatty acid and cholesterol Beta-oxidation. It has a multi-domain structure: the dehydrogenase domain is fused to a hydratase and a lipid transfer domain. 17Beta-HSD4 is a target protein of chromeceptin and it is essential for the downstream activation of Stat6. 17Beta-HSD4-deficient patients exhibit Zellweger-like syndrome and die within the first year of life. They display neuronal migration defects, facial dysmorphisms, severe hypotonia and convulsions in the neonatal period.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12345R-CY5)
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-12345R-CY3)
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-12345R-A680)
Supplier: Bioss
Description: HEM1 is a 1127 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 1100 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-12345R-A750)
Supplier: Bioss
Description: HEM1 is a 1127 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 1100 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-11296R-CY7)
Supplier: Bioss
Description: 17Beta-HSD4 (17Beta-hydroxysteroid dehydrogenase type 4) is also known as peroxisomal multifunctional enzyme/protein 2 (MFE-2/MFP-2), D-bifunctional enzyme or 17-Beta Estradiol dehydrogenase type IV. It belongs to the 17Beta-HSD family of proteins that regulate the availability of steroids within various tissues throughout the body. 17Beta-HSD4 inactivates Estradiol through its oxidative activity but it is primarily involved in peroxisomal fatty acid and cholesterol Beta-oxidation. It has a multi-domain structure: the dehydrogenase domain is fused to a hydratase and a lipid transfer domain. 17Beta-HSD4 is a target protein of chromeceptin and it is essential for the downstream activation of Stat6. 17Beta-HSD4-deficient patients exhibit Zellweger-like syndrome and die within the first year of life. They display neuronal migration defects, facial dysmorphisms, severe hypotonia and convulsions in the neonatal period.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11722R-A647)
Supplier: Bioss
Description: Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin ?1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterized by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt抯 lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9990R-A750)
Supplier: Bioss
Description: Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin-1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterised by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt's lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8018R)
Supplier: Bioss
Description: Clefts of the oral-facial region usually occur in early fetal development and can affect the lip, the soft palate (the soft tissue in the back of the mouth) and the hard palate (the roof of the mouth). Cleft lip (with or without cleft palate) is a genetically complex birth defect that occurs in approximately one in every 750-1,000 live births. This is one of the most common birth defects and is multifactorial, with both genetic and environmental causes. Cleft lip- and palate-associated transmembrane protein 1 (CLPTM1) belongs to a family of cleft lip and palate transmembrane proteins. This family also contains cisplatin resistance-related protein (CRR9), which is involved in CDDP-induced apoptosis. The CLPTM1 protein shows strong homology to two Caenorhabditis elegans genes.
UOM: 1 * 100 µl


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