ptr-4 encodes a nematode-specific member of the sterol sensing domain(SSD) proteins, distantly paralogous to Drosophila PATCHED (PTC) andhuman PTCH (OMIM:601309, mutated in basal cell nevus syndrome); PTR-4 isstrongly required for normal molting from L4 to adult stages male taildevelopment (a role conserved in C. briggsae); PTR-4 is also requiredfor normal endocytosis of yolk by oocytes, adult alae formation, growthto full size, locomotion, and viability.
Involved in endocytosis and molting cycle. Acts upstream of or within nematode male tail mating organ morphogenesis. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Expressed in cuticular ala; epithelial cell; hyp7 syncytium; rectum; and vulva. Human ortholog(s) of this gene implicated in autistic disorder. Is an ortholog of human PTCHD1 (patched domain containing 1) and PTCHD4 (patched domain containing 4).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.