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Rabbit Anti-GDF1/FITC Conjugated antibody
background:
This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a monocistronic mRNA early in development, and from a bicistronic mRNA in later stages that also encodes the LAG1 homolog, ceramide synthase 1 gene.
Function:
May mediate cell differentiation events during embryonic development.
Subunit:
Homodimer; disulfide-linked.
Subcellular Location:
Secreted.
Tissue Specificity:
Expressed in the brain.
DISEASE:
Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented in this entry.
Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the TGF-beta family.
Database links:
Entrez Gene: 2657 Human
Entrez Gene: 14559 Mouse
Entrez Gene: 306351 Rat
Omim: 602176 Human
SwissProt: P27539 Human
SwissProt: P20863 Mouse
Unigene: 412355 Human
Unigene: 258280 Mouse
Unigene: 202347 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
GDF-1属于转移生长因子–β(TGF-β)家族成员。
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