GJA1


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Related to GJA1: Cx43

GJA1

A gene on chromosome 6q21-q23.2 that encodes an alpha chain of the gap junction protein family, or connexins.

Molecular pathology
GJA1 mutations are associated with oculodentodigital dysplasia and cardiac malformations.
References in periodicals archive ?
Similarly, no pathogenic variants were detected in GJA1, suggesting their non-implication in hearing loss among the Cameroonians and black South Africans studied, [15] as has been reported in African Americans.
From our analysis, there is no evidence that mutations in GJB2, GJB6 or GJA1 are associated with non-syndromic deafness in sub-Saharan African patients.
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.