PTCHD1
Gene Information
- Official Symbol: PTCHD1
- Official Name: patched domain containing 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 139411
- UniProt: Q96NR3
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. {ECO:0000250|UniProtKB:Q14B62}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 18230
- Expression level (log2 read counts): 2.52