Version 2.78

Description

The TYR gene (tyrosinase) [HGNC Gene ID:12442] is located on chromosome 11q14.3. The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:7299] 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 Display Name
TYR gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-10
Construct for LOINC Short Name
TYR gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33142-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33142-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TYR 基因
Synonyms: OCA1A;OCAIA;酪氨酸酶基因
et-EE Estonian (Estonia) TYR geen
es-ES Spanish (Spain) Gen TYR
it-IT Italian (Italy) TYR, gene
Synonyms: Gene TYR
tr-TR Turkish (Turkey) TYR geni
ru-RU Russian (Russian Federation) TYR ген
nl-NL Dutch (Netherlands) TYR-gen
Synonyms: TYR gen