LP32675-8
MCOLN1 gene
Active
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
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
- 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
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- CodeSystem lookup
- https:
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | MCOL1 基因 Synonyms: ML4; |
es-ES | Spanish (Spain) | Gen MCOLN1 |
it-IT | Italian (Italy) | MCOLN1, gene Synonyms: Gene MCOLN1 |
et-EE | Estonian (Estonia) | MCOLN1 geen |
tr-TR | Turkish (Turkey) | MCOLN1 geni |
ru-RU | Russian (Russian Federation) | MCOLN1 ген |
nl-NL | Dutch (Netherlands) | MCOLN1-gen Synonyms: MCOLN1 gen |
el-GR | Greek (Greece) | Γονίδιο MCOLN1 Synonyms: Γονίδιο MCOLN1 |
LOINC Copyright
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