| Entrez Gene ID | 139411 |
|---|---|
| Official Gene Symbol | PTCHD1 (GeneCards) |
| Full name | patched domain containing 1 |
| Location | Xp22.11 |
| Other ids | Vega : OTTHUMG00000021251 MIM : 300828 HGNC : HGNC:26392 Ensembl : ENSG00000165186 |
| Other names | AUTSX4 |
| Summary | 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22306 | 139411 | PTCHD1 | X | 23549356 | 23549356 | Cockayne syndrome | HiSeq X Ten |
| 22403 | 139411 | PTCHD1 | X | 23432789 | 23432789 | Xeroderma Pigmentosum | HiSeq X Ten |