Orphanet: RAB39B, member RAS oncogene family

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RAB39B - RAB39B, member RAS oncogene family

Synonym(s) :
Previous symbols and names : MRX72, WSN, Waisman syndrome, mental retardation, X-linked 72
Type : gene with protein product
Chromosomal location : Xq28
OMIM: 300774
HGNC: 16499
UniProtKB: Q96DA2
Genatlas: RAB39B
Ensembl: ENSG00000155961
IUPHAR-DB: -
Reactome: Q96DA2
LOVD: RAB39B

Diseases list

Disease-causing germline mutation(s) (loss of function) in Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379
Disease-causing germline mutation(s) (loss of function) in X-linked non-syndromic intellectual disability ORPHA:777

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (43)

Research activities on this gene

Specialised Social Services

Eurordis directory

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