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, Rab; G protein, monomeric
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.