Aliases for PTCHD4 Gene
External Ids for PTCHD4 Gene
Previous HGNC Symbols for PTCHD4 Gene
GeneCards Summary for PTCHD4 Gene
PTCHD4 (Patched Domain Containing 4) is a Protein Coding gene. Diseases associated with PTCHD4 include Otopalatodigital Syndrome, Type I and Basal Cell Nevus Syndrome. Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD1.
UniProtKB/Swiss-Prot Summary for PTCHD4 Gene
Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.