| LRBA |
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| Identifiers |
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| Aliases | LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein |
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| External IDs | OMIM: 606453; MGI: 1933162; HomoloGene: 36205; GeneCards: LRBA; OMA:LRBA - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 3 (mouse) |
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| | Band | 3|3 F1 | Start | 86,131,987 bp |
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| End | 86,689,999 bp |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - skin of thigh
- bronchial epithelial cell
- epithelium of colon
- gingival epithelium
- epithelium of nasopharynx
- corpus epididymis
- right uterine tube
- Epithelium of choroid plexus
- retinal pigment epithelium
- skin of hip
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| | Top expressed in | - ciliary body
- ankle
- retinal pigment epithelium
- utricle
- vestibular sensory epithelium
- olfactory epithelium
- iris
- vestibular membrane of cochlear duct
- temporal muscle
- urothelium
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| | More reference expression data |
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| BioGPS | |
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| Wikidata |
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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]
Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein deficiency.
