WDR19 Antibody – Rabbit Polyclonal

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008]

WDR19: May be involved in cilia function and/or assembly. Defects in WDR19 are the cause of cranioectodermal dysplasia type 4 (CED4). CED4 is a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Defects in WDR19 are the cause of asphyxiating thoracic dystrophy type 5 (ATD5). ATD5 is an autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Defects in WDR19 are the cause of nephronophthisis type 13 (NPHP13). NPHP13 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 4p14

Cellular Component: nucleoplasm; cytoskeleton; nonmotile primary cilium; cytoplasm; photoreceptor connecting cilium; cilium

Biological Process: in utero embryonic development; organelle organization and biogenesis; cilium biogenesis; ear morphogenesis; embryonic cranial skeleton morphogenesis; embryonic camera-type eye development; neurological system process; embryonic limb morphogenesis

Disease: Cranioectodermal Dysplasia 4; Senior-loken Syndrome 8; Short-rib Thoracic Dysplasia 5 With Or Without Polydactyly