MFN2 wt Allele

Preferred Label : MFN2 wt Allele;

NCIt synonyms : Hyperplasia Suppressor Gene; CMT2A2; CMT2A; HSG; KIAA0214; Mitofusin 2 wt Allele; CPRP1; MARF;

NCIt definition : Human MFN2 wild-type allele is located in the vicinity of 1p36.22 and is approximately 33 kb in length. This allele, which encodes mitofusin-2 protein, plays a role in both GTP hydrolysis and mitochondrial fusion. Mutation of the gene is associated with Charcot-Marie-Tooth disease types 2A2 and 6.;

GenBank Accession Number : AF036536;

Details

Origin ID

C113228;

UMLS CUI

C3811170;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a [OMIM Phenotype]
- Mitofusin 2 [OMIM gene]
- kinesin family member 1B [ORDO Gene]
- mitofusin 2 [ORDO Gene]
OMIM relation
- Mitofusin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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