LRBA gene

LPS responsive beige-like anchor protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

From UniProt:

May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Common variable immunodeficiency 8, with autoimmunity

From UniProt:

Immunodeficiency, common variable, 8, with autoimmunity (CVID8): An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. [MIM:614700]

Cytogenetic Location: 4q31.3, which is the long (q) arm of chromosome 4 at position 31.3

Molecular Location: base pairs 150,264,515 to 151,015,725 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q31.3, which is the long (q) arm of chromosome 4 at position 31.3
  • BGL
  • CDC4L
  • CVID8
  • LAB300
  • LBA