" /> AIFM1 wt Allele - CISMeF





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;

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31/07/2025


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