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]
Function:
Involved in B-cell development. Required for the pro-B cell to pre-B cell transition.
Subcellular Location:
Membrane.
Tissue Specificity:
Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.
DISEASE:
Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5) [MIM:613506]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.
Similarity:
Contains 17 LRR (leucine-rich) repeats.
SWISS:
Q8IWT6
Gene ID:
52626
Database links:
Entrez Gene: 56262 Human
Entrez Gene: 505605 Cow
Entrez Gene: 491309 Dog
Entrez Gene: 241296 Mouse
Entrez Gene: 311846 Rat
Omim: 60872 Human
SwissProt: Q8IWT6 Human
SwissProt: Q80WG5 Mouse
SwissProt: Q4V8I7 Rat
Unigene: 64720 Human
Unigene: 389232 Mouse
Unigene: 475219 Mouse
Unigene: 33512 Rat
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