AIFM1 wt Allele

Preferred Label : AIFM1 wt Allele;

NCIt synonyms : SEMDHL; AUNX1; CMT2D; Programmed Cell Death 8 (Apoptosis-Inducing Factor) Gene; Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 Gene; PDCD8; CMTX4; NAMSD; COWCK; Neuropathy, Axonal, Motor-Sensory With Deafness and Mental Retardation (Cowchock Syndrome) Gene; NADMR; COXPD6; AIF; Apoptosis Inducing Factor, Mitochondria Associated 1 Gene; Apoptosis Inducing Factor Mitochondria Associated 1 wt Allele; DFNX5;

NCIt definition : Human AIFM1 wild-type allele is located Xq26.1 and is approximately 37 kb in length. This allele, which encodes apoptosis-inducing factor 1, mitochondrial protein, is involved in apoptosis and mitochondrial respiratory activity. Mutations in the gene are associated with Cowchock syndrome (X-linked recessive Charcot-Marie-Tooth disease 4), X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy, X-linked deafness 5 and combined oxidative phosphorylation deficiency 6.;

NCI Metathesaurus CUI : CL1647901;

GenBank Accession Number : AF100928;

Details

Origin ID

C178195;

UMLS CUI

C5551097;

Automatic exact mappings (from CISMeF team)
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
- Charcot-Marie-Tooth disease X-linked recessive 4 [DO Concept]
- Charcot-Marie-Tooth disease type 2D [DO Concept]
- Charcot-Marie-Tooth disease, type 2D [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2d [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency 6 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 6 [ICD-11 More detail]
- Deafness, X-linked 5, with peripheral neuropathy [OMIM Phenotype]
- Severe X-linked mitochondrial encephalomyopathy [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [OMIM Phenotype]
- X-linked deafness 5 [DO Concept]
- apoptosis inducing factor [MeSH Descriptor]
- apoptosis inducing factor mitochondria associated 1 [ORDO Gene]
- combined oxidative phosphorylation deficiency 6 [DO Concept]
- cowchock syndrome [MeSH Supplementary Concept]
OMIM relation
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
See also inter- (CISMeF)
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq26.1 [NCIt concept]
gene_is_element_in_pathway
- AIF Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Ceramide Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase Activation [NCIt concept]
- Caspase-Independent Apoptosis [NCIt concept]
- Cell Respiration [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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