Orphanet: LPS responsive beige like anchor protein

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LRBA - LPS responsive beige-like anchor protein

Synonym(s) : BGL, LAB300, LBA
Previous symbols and names : CDC4L, LPS-responsive vesicle trafficking, beach and anchor containing
Type : gene with protein product
Chromosomal location : 4q31.3
OMIM: 606453
HGNC: 1742
UniProtKB: P50851
Genatlas: LRBA
GenCC: LRBA
Ensembl: ENSG00000198589
IUPHAR-DB: -
Reactome: -
LOVD: LRBA

Diseases list

Disease-causing germline mutation(s) (loss of function) in Combined immunodeficiency due to LRBA deficiency ORPHA:445018

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (29)

Research activities on this gene

Specialised Social Services

Eurordis directory

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