WDPCP Antibody – Rabbit Polyclonal

LOC51057: Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Defects in WDPCP are the cause of Bardet-Biedl syndrome type 15 (BBS15). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and Meckel syndrome by interacting in trans with primary BBS and MKS loci. Belongs to the WD repeat fritz family. 3 isoforms of the human protein are produced by alternative splicing.

Cellular Component: cell projection; cilium; cytoplasm; cytoskeleton; membrane; plasma membrane

Molecular Function: protein binding

Biological Process: auditory receptor cell morphogenesis; camera-type eye development; cell projection organization and biogenesis; cilium biogenesis; embryonic digit morphogenesis; embryonic organ development; establishment of protein localization; kidney development; nervous system development; palate development; regulation of focal adhesion formation; smoothened signaling pathway