protein 791 words KG: RAB38
Contents

RAB38 Protein

🔬 Protein Info
Gene SymbolRAB38
Full NameRAB38, Member RAS Oncogene Family
Chromosome11q14.2
FunctionRAB38 encodes a small GTPase involved in intracellular vesicle trafficking, particularly melanosome and lysosome-related organelle function.
Molecular Weight25 kDa
UniProt ID[O14964](https://www.uniprot.org/uniprot/O14964)
Ensembl IDENSG00000123892
OMIM606436
GeneCardsRAB38
Human Protein AtlasRAB38
GTPase-Activating Proteins (GAPs)Accelerate GTP hydrolysis, inactivating RAB38
GDP Dissociation Inhibitors (GDIs)Extract RAB38-GDP from membranes for cytosolic storage
Hermansky-Pudlak SyndromeRAB38 mutations cause HPS, characterized by oculocutaneous albinism and bleeding diathesis. While primarily a pigment disorder, some HPS subtypes involve neurodegeneration.
Alzheimer's DiseaseAltered RAB38 expression has been reported in AD brains, potentially affecting amyloid precursor protein (APP) trafficking and Aβ secretion.
Associated Diseasesneurodegeneration
DatabasesGeneCardsNCBI GeneHPASTRING

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