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Description

The MCOLN1 gene (mucolipin 1) [HGNC Gene ID:13356] is located on chromosome 19p13.2. This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] [NCBI Gene ID:57192] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
MCOLN1 gene
Part Display Name
MCOLN1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-23
Construct for LOINC Short Name
MCOLN1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32675-8
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https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP32675-8

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)MCOL1 基因
Synonyms: ML4;MLIV;粘脂素 1;粘脂素(mucolipidin);粘脂素(mucolipin)
et-EEEstonian (Estonia)MCOLN1 geen
es-ESSpanish (Spain)Gen MCOLN1
it-ITItalian (Italy)MCOLN1, gene
Synonyms: Gene MCOLN1
tr-TRTurkish (Turkey)MCOLN1 geni
ru-RURussian (Russian Federation)MCOLN1 ген
nl-NLDutch (Netherlands)MCOLN1-gen
Synonyms: MCOLN1 gen
fr-FRFrench (France)MCOLN1 gène
pl-PLPolish (Poland)MCOLN1 gen
Synonyms: Gen MCOLN1
el-GRGreek (Greece)Γονίδιο MCOLN1
Synonyms: Γονίδιο MCOLN1