The PTCH1 gene homepage
| General information |
| Gene symbol |
PTCH1 |
| Gene name |
patched 1 |
| Chromosome |
9 |
| Chromosomal band |
q22.1-q31 |
| Imprinted |
- |
| Genomic reference |
NG_007664.1 |
| Transcript reference |
NM_000264.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
333 |
| Unique public DNA variants reported |
249 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
Also known as: PTC; BCNS; HPE7; PTC1; PTCH; NBCCS; PTCH11 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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