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GJA1 gap junction protein alpha 1

Also known as: HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-11-20)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-11-20)

ClinGen Genome Curation Page

Genomic context

Location:
6q22.31
Sequence:
Chromosome: 6; NC_000006.12 (121435577..121449744)
Total number of exons:
2

Links

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