This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
Subcellular Location:
Cell membrane.
Tissue Specificity:
Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.
Similarity:
Belongs to the patched family.
Contains 1 SSD (sterol-sensing) domain.
SWISS:
Q96NR3
Gene ID:
139411
Database links:
Entrez Gene: 427995 Chicken
Entrez Gene: 536443 Cow
Entrez Gene: 139411 Human
Entrez Gene: 211612 Mouse
Entrez Gene: 100151829 Pig
Entrez Gene: 317517 Rat
Omim: 300828 Human
SwissProt: Q96NR3 Human
SwissProt: Q14B62 Mouse
Unigene: 319503 Human
|
|