AIFM1 across dismech

AIFM1 (apoptosis inducing factor mitochondria associated 1) is named by 6 disorder entries.

Normal function

ai-gene-review gives AIFM1's core molecular functions as DNA binding; NADH dehydrogenase activity; and protein-membrane adaptor activity, acting in positive regulation of apoptotic process; and protein import into the intermembrane space via the disulfide relay system.

Causative records

Three entries type AIFM1 as causative: Charcot-Marie-Tooth Disease Type X; Severe X-linked Mitochondrial Encephalomyopathy; and X-linked Nonsyndromic Hearing Loss. Only one records the variant origin as germline (Severe X-linked Mitochondrial Encephalomyopathy); for example Charcot-Marie-Tooth Disease Type X is unrecorded. In Severe X-linked Mitochondrial Encephalomyopathy the gene sits on the node Unstable AIF Protein.

Untyped records and ClinGen

3 entries carry AIFM1 with no relationship type: Auditory Neuropathy; Charcot-Marie-Tooth Disease X-linked Recessive 4; and Spondyloepimetaphyseal Dysplasia Bieganski Type. ClinGen classifies AIFM1 for 2 diseases, and rates it definitive for the disease matched to X-linked Nonsyndromic Hearing Loss.

Where the layers agree and disagree

The KB's gene-bound nodes carry RNA splicing; apoptotic process; mitochondrial respiratory chain complex I assembly; mitochondrion organization; and protein import into mitochondrial intermembrane space, and share 0 of them with ai-gene-review by exact identifier. The intermembrane-space import process in the KB is the parent of the disulfide-relay import process in the review, so the two describe the same function at different specificity.