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Gene : GJA8 Homo sapiens

Name  ? gap junction protein alpha 8 Cytological Location  1q21.2
Brief Description  gap junction protein alpha 8
Description  This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
  • synonyms:
  • uc057kfk.1,
  • gap junction protein, alpha 8, 50kDa (connexin 50),
  • gap junction protein, alpha 8, 50kDa,
  • OTTHUMG00000024085,
  • CAE,
  • HGNC:4281,
  • NM_005267,
  • CZP1,
  • gap junction protein, alpha 8, 50kD (connexin 50),
  • GJA8,
  • MP70,
  • CAE,
  • CX50,
  • CAE1,
  • CZP1,
  • CTRCT1,
  • U34802,
  • connexin 50,
  • CX50,
  • CAE1
  • identifiers:
  • 2703,
  • ENSG00000121634,
  • GJA8

Genome feature

Region: gene ? Length: 12493  
Location: 1:147902795-147915287 Cyto location: 1q21.2


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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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3 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results