gja1b - gap junction protein alpha 1b
Enables gap junction hemi-channel activity and voltage-gated channel activity. Acts upstream of or within several processes, including Kupffer's vesicle development; embryonic organ development; and skeletal system development. Located in gap junction and plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; fin; immature eye; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Nov 2024]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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