GJD4

Chr 10

gap junction protein delta 4

Also known as: CX40.1

NCBI Gene: 219770 ENSG00000177291 UniProt: Q96KN9

GJD4 encodes connexin-40.1, a protein that forms gap junction channels allowing direct intercellular communication and diffusion of small molecules between neighboring cells. Mutations in GJD4 cause autosomal recessive erythrokeratoderma variabilis et progressiva, a rare skin disorder characterized by transient erythematous patches and progressive hyperkeratotic plaques. The gene shows tolerance to loss-of-function variants (pLI=0.015, LOEUF=1.93), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

Multiple*

Mechanism· predicted