AAH22450.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,475 Da
NCBI Official Full Name
GDF1 protein
NCBI Official Synonym Full Names
growth differentiation factor 1
NCBI Protein Information
embryonic growth/differentiation factor 1; GDF-1
UniProt Protein Name
Embryonic growth/differentiation factor 1
UniProt Synonym Gene Names
UniProt Entry Name
GDF1_HUMAN
NCBI Summary for GDF1
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. Studies in rodents suggest that 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 bicistronic mRNA that also encodes the longevity assurance gene. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Mar 2014]
UniProt Comments for GDF1
GDF1: May mediate cell differentiation events during embryonic development. Defects in GDF1 are a cause of conotruncal heart malformations (CTHM). 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. Defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3 (DTGA3). 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. Defects in GDF1 are a cause of tetralogy of Fallot (TOF). 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. Belongs to the TGF-beta family.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 19p12
Cellular Component: extracellular space
Molecular Function: growth factor activity; cytokine activity; transforming growth factor beta receptor binding
Biological Process: BMP signaling pathway; regulation of apoptosis; regulation of MAPKKK cascade; cell development; growth
Disease: Transposition Of The Great Arteries, Dextro-looped 3; Right Atrial Isomerism; Conotruncal Heart Malformations; Tetralogy Of Fallot
Research Articles on GDF1
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Products associated with GDF1 elisa kit
Pathways associated with GDF1 elisa kit
Diseases associated with GDF1 elisa kit
Organs/Tissues associated with GDF1 elisa kit
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