transforming growth factor beta 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009]

From UniProt:

Involved in embryogenesis and cell differentiation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Arrhythmogenic right ventricular cardiomyopathy, type 1
  • Rienhoff syndrome

From UniProt:

Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. [MIM:107970]

Loeys-Dietz syndrome 5 (LDS5): A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. [MIM:615582]

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24

Molecular Location: base pairs 75,958,097 to 75,982,022 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24
  • ARVD
  • ARVD1
  • LDS5
  • RNHF
  • TGF-beta3