Gene Symbol | LRRC8A |
Entrez Gene ID | 56262 |
Full Name | leucine rich repeat containing 8 VRAC subunit A |
Synonyms | AGM5,LRRC8,SWELL1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Agammaglobulinemia 5, 613506 (3) |