MLPH wt Allele

Preferred Label : MLPH wt Allele;

NCIt synonyms : Melanophilin wt Allele; SLAC2A; SLAC2-A;

NCIt definition : Human MLPH wild-type allele is located in the vicinity of 2q37.3 and is approximately 70 kb in length. This allele, which encodes melanophilin protein, plays a role in melanosome transport. Mutation of the gene is associated with hypopigmentation in type 3 Griscelli syndrome.;

NCI Metathesaurus CUI : CL553348;

GenBank Accession Number : AY358857;

Details

Origin ID

C152012;

UMLS CUI

C4723892;

Automatic exact mappings (from CISMeF team)
- Melanophilin [OMIM gene]
- melanophilin [ORDO Gene]
OMIM relation
- Melanophilin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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