RAB27B

Chr 18

RAB27B, member RAS oncogene family

Also known as: C25KG

NCBI Gene: 5874 ENSG00000041353 UniProt: O00194 OMIM: 603869

RAB27B encodes a small GTPase that regulates intracellular membrane trafficking, vesicle transport, and late endocytic pathway homeostasis, including facilitating axonal transport of neurotrophin receptors. Mutations cause Zimmermann-Laband syndrome, a rare disorder characterized by facial dysmorphism, intellectual disability, and distinctive features including gingival overgrowth and nail dysplasia. The condition follows an autosomal dominant inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Enables guanyl ribonucleotide binding activity; myosin V binding activity; and protein domain specific binding activity. Involved in multivesicular body sorting pathway and positive regulation of exocytosis. Located in Golgi stack and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted

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