This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Patched domain-containing protein 1.
| Human | |
|---|---|
| Gene Name: | PTCHD1 |
| Uniprot: | Q96NR3 |
| Entrez: | 139411 |

| Belongs to: |
|---|
| patched family |

FLJ30296; MGC149798; patched domain containing 1; patched domain-containing protein 1
Mass (kDA):
101.341 kDA

| Human | |
|---|---|
| Location: | Xp22.11 |
| Sequence: | X; NC_000023.11 (23334369..23404374) |
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.
Cell membrane; Multi-pass membrane protein.




PMID: 20844286 by Noor A., et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
PMID: 25131214 by Chaudhry A., et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.