MCOLN1 wt Allele

Preferred Label : MCOLN1 wt Allele;

NCIt synonyms : MLIV; Mucolipin TRP Cation Channel 1 wt Allele; Transient Receptor Potential Mucolipin 1 Gene; ML1; ML4; TRP-ML1; Transient Receptor Potential Cation Channel Mucolipin Subfamily Member 1 Gene; TRPM-L1; Mucolipidosis Type IV Gene; MST080; MG-2; TRPML1; Mucolipin 1 Gene; MSTP080; Transient Receptor Potential Cation Channel, Mucolipin Subfamily, Member 1 Gene;

NCIt definition : Human MCOLN1 wild-type allele is located in the vicinity of 19p13.2 and is approximately 11 kb in length. This allele, which encodes mucolipin-1 protein, plays a role in the regulation of membrane trafficking events and of cation homeostasis. Mutation of the gene is associated with mucolipidosis IV.;

NCI Metathesaurus CUI : CL1926463;

GenBank Accession Number : AF249319;

Details

Origin ID

C203784;

UMLS CUI

C5890919;

OMIM relation
- Mucolipin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.2 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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