AIFM1 wt Allele

**Semantic type:** Gene or Genome

**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.

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