RAP23
MIM.606144 6p11
Rab proteins (RABs) are small GTPases of the Ras superfamily involved in the regulation of intracellular membrane trafficking. The RAB23 gene encodes an essential negative regulator of the Sonic hedgehog (SHH) (MIM.600725) signaling pathway.
Pathology
germline mutations in acrocephalopolysyndactyly type 2 (Carpenter syndrome ) (MIM.201000)
See also
RABs
References
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity. Am J Hum Genet. 2007 Jun;80(6):1162-70. PMID: #17503333#