Description

The CDHR1 gene (cadherin-related family member 1) [HGNC Gene ID:14550] is located on chromosome 10q23.1. This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013] [NCBI Gene ID:92211] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CDHR1 gene
Part Display Name
CDHR1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-02-04
Construct for LOINC Short Name
CDHR1

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP189386-8

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CDHR1 基因
Synonyms: 钙粘蛋白-相关家族成员 1;钙粘附蛋白-相关家族成员 1;Cadherin-Related Family Member 1
es-ESSpanish (Spain)Gen CDHR1
it-ITItalian (Italy)CDHR1, gene
Synonyms: Gene CDHR1
tr-TRTurkish (Turkey)CDHR1 geni
nl-NLDutch (Netherlands)CDHR1-gen
Synonyms: CDHR1 gen
fr-FRFrench (France)CDHR1 gène
pl-PLPolish (Poland)CDHR1 gen
Synonyms: Gen CDHR1
el-GRGreek (Greece)Γονίδιο CDHR1
Synonyms: Γονίδιο CDHR1