Results for the protein: P17302

Results for the Protein: P17302

117706

2697

GJA1

NCBI, UniProt

CXA1_HUMAN RecName: Full=Gap junction alpha-1 protein; AltName: Full=Connexin-43; Short=Cx43; AltName: Full=Gap junction 43 kDa heart protein

Known Diseases associated with this Protein:
  ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (CMDR)
  HALLERMANN-STREIFF SYNDROME (HSS)
  HYPOPLASTIC LEFT HEART SYNDROME 1
  HYPOPLASTIC LEFT HEART SYNDROME 1 (HLHS1)
  OCULODENTODIGITAL DYSPLASIA
  OCULODENTODIGITAL DYSPLASIA (ODDD)
  OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
  SYNDACTYLY 3 (SDTY3)
  SYNDACTYLY, TYPE III

61

17

16

1

61

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