LP189384-3

PCDH15 gene

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Description

The PCDH15 gene (protocadherin-related 15) [HGNC Gene ID:14674] is located on chromosome 10q21.1. This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] [NCBI Gene ID:65217] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name: PCDH15 gene
Part Display Name: PCDH15 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2015-02-04
Construct for LOINC Short Name: PCDH15

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CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP189384-3

Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	PCDH15 基因 Synonyms: 原钙粘蛋白-相关 15;原钙粘附蛋白-相关 15;Protocadherin-Related 15
es-ES	Spanish (Spain)	Gen PCDH15
it-IT	Italian (Italy)	PCDH15, gene Synonyms: Gene PCDH15
tr-TR	Turkish (Turkey)	PCDH15 geni
nl-NL	Dutch (Netherlands)	PCDH15-gen Synonyms: PCDH15 gen
fr-FR	French (France)	PCDH15 gène
pl-PL	Polish (Poland)	PCDH15 gen Synonyms: Gen PCDH15
el-GR	Greek (Greece)	Γονίδιο PCDH15 Synonyms: Γονίδιο PCDH15

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