LRRC8A
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_019594.2 Gene Symbol LRRC8A
Protein Name Leucine rich repeat containing 8 family, member a
Alternate Names FLJ10337, KIAA1437, LRRC8
Gene Locus 9q34.11

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
151 - 608360 56262 -
 19027 ENSG00000136802 Q8IWT6 LRRC8A

Disease name Characteristic / Associated features Category inheritance type
Non-Bruton type autosomal dominant agammaglobulinemia Absence of B lymphocytes in peripheral blood; epicanthal folds; hypertelorism; high-arched palate; lowered ears Predominantly antibody deficiencies Autosomal dominant