LP34975-0
PTCH gene
Active
Description
The PTCH gene (patched 1) gene is located on chromosome 9q22.3. 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] [NCBI Gene ID:5727] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- PTCH gene
- Part Display Name
- PTCH gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-03
- Construct for LOINC Short Name
- PTCH gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP34975-0 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP34975-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PTCH 基因 Synonyms: BCNS; |
| es-ES | Spanish (Spain) | Gen PTCH |
| it-IT | Italian (Italy) | PTCH, gene Synonyms: Gene PTCH |
| et-EE | Estonian (Estonia) | PTCH geen |
| tr-TR | Turkish (Turkey) | PTCH geni |
| ru-RU | Russian (Russian Federation) | PTCH ген |
| nl-NL | Dutch (Netherlands) | PTCH-gen Synonyms: PTCH gen |
| el-GR | Greek (Greece) | Γονίδιο PTCH Synonyms: Γονίδιο PTCH |
LOINC Copyright
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