LRBA

LRBA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T77
Identifiers
Aliases	LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs	MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA
Gene ontology Molecular function • molecular function Cellular component • integral component of membrane • plasma membrane • Golgi apparatus • lysosome • endoplasmic reticulum • membrane Biological process • biological process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	987	80877
Ensembl	ENSG00000198589	ENSMUSG00000028080
UniProt	P50851	Q9ESE1
RefSeq (mRNA)	NM_001199282 NM_006726	NM_001077687 NM_001077688 NM_030695
RefSeq (protein)	NP_001186211 NP_006717	NP_001071155.1 NP_001071156.1 NP_109620.2 NP_001071155 NP_001071156 NP_109620
Location (UCSC)	Chr 4: 150.26 – 151.02 Mb	Chr 3: 86.22 – 86.78 Mb
PubMed search

1T77

987

80877

ENSG00000198589

ENSMUSG00000028080

P50851

Q9ESE1

NM_001199282
NM_006726

NM_001077687
NM_001077688
NM_030695

NP_001186211
NP_006717

NP_109620

Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.

Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM]

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