Gja1 - gap junction protein, alpha 1

Enables several functions, including beta-tubulin binding activity; glutathione transmembrane transporter activity; and scaffold protein binding activity. Involved in several processes, including animal organ development; cellular response to amyloid-beta; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including circulatory system development; regulation of gene expression; and regulation of membrane depolarization. Located in several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; sensory organ; and skin. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive craniometaphyseal dysplasia; congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Apr 2022]