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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. Note: This description may include information from UniProtKB.
Protein type: G protein; G protein, monomeric; G protein, monomeric, Rab
Chromosomal Location of Human Ortholog: 6p12.1-p11.2
Cellular Component: autophagic vacuole; cell junction; centrosome; cytoplasm; cytosol; endosome membrane; phagocytic vesicle; phagocytic vesicle membrane; plasma membrane
Molecular Function: GTP binding; GTPase activity; protein binding
Biological Process: autophagosome assembly; cellular defense response; GTP metabolic process; negative regulation of transcription factor import into nucleus; protein transport
Disease: Carpenter Syndrome 1
Reference #:  Q9ULC3 (UniProtKB)
Alt. Names/Synonyms: DKFZp781H0695; HSPC137; MGC8900; RAB family small GTP binding protein RAB 23; RAB23; RAB23, member RAS oncogene family; Ras-related protein Rab-23
Gene Symbols: RAB23
Molecular weight: 26,659 Da
Basal Isoelectric point: 6.22  Predict pI for various phosphorylation states
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