patched domain containing 1

Symbol

PTCHD1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
si:dkey-225n3.4 Danio rerio
Ptchd1 Mus musculus
Ptchd1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA4339 Gene expression of PTCHD1 increases with age Molecular skin Human PTCHD1 —

GO Terms

GO IDGO TermGO Category
GO:0007224 smoothened signaling pathway biological_process
GO:0050890 cognition biological_process
GO:0005886 plasma membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0003674 molecular_function molecular_function
GO:0008158 hedgehog receptor activity molecular_function