Ras-Related Protein Rab-23 (RAB23) Human Recombinant Protein

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RAB23: Defects in RAB23 are the cause of acrocephalopolysyndactyly type 2 (ACPS2). A syndrome characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects. Belongs to the small GTPase superfamily. Rab family.

Protein type: G protein, monomeric; G protein, monomeric, Rab; G protein

Chromosomal Location of Human Ortholog: 6p11

Cellular Component: phagocytic vesicle membrane; cytoplasm; plasma membrane; endosome membrane; autophagic vacuole; phagocytic vesicle

Molecular Function: GTPase activity; protein binding; GDP binding; GTP binding

Biological Process: negative regulation of proteolysis; protein transport; spinal cord dorsal/ventral patterning; cellular defense response; cilium biogenesis; embryonic digit morphogenesis; Rab protein signal transduction; negative regulation of transcription factor import into nucleus; regulation of smoothened signaling pathway; autophagic vacuole formation

Disease: Carpenter Syndrome 1