Version 2.80

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

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;Gorlin 综合征;HPE7;NBCCS;Patched (果蝇) 同源基因;PTC;PTC1;痔样基底细胞综合征;痣样基底细胞癌综合征;颌骨囊肿-基底细胞痣-肋骨分叉综合征
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