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Gene : LRRC8A Homo sapiens

Name  ? leucine rich repeat containing 8 VRAC subunit A Cytological Location  9q34.11
Brief Description  leucine rich repeat containing 8 VRAC subunit A
Description  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]
  • synonyms:
  • AB037858,
  • AGM5,
  • OTTHUMG00000020766,
  • LRRC8,
  • leucine rich repeat containing 8 family member A,
  • leucine rich repeat containing 8,
  • LRRC8A,
  • uc004bwl.5,
  • FLJ10337,
  • KIAA1437,
  • HGNC:19027,
  • SWELL1,
  • SWELL1,
  • NM_019594,
  • LRRC8
  • identifiers:
  • 56262,
  • ENSG00000136802,
  • LRRC8A

Genome feature

Region: gene ? Length: 35931  
Location: 9:128882112-128918042 Cyto location: 9q34.11

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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422 SN Ps

5 Cross References

17 Data Sets

36 Homologues

0 Located Features

97 Rna Seq Results