CATH Classification

Domain Context

CATH Clusters

Superfamily 3.30.390.30
Functional Family Putative apoptosis-inducing factor 1, mitochondrial

Enzyme Information

1.1.1.-
With NAD(+) or NADP(+) as acceptor.
based on mapping to UniProt O95831

UniProtKB Entries (1)

O95831
AIFM1_HUMAN
Homo sapiens
Apoptosis-inducing factor 1, mitochondrial

PDB Structure

PDB 4FDC
External Links
Method X-RAY DIFFRACTION
Organism
Primary Citation
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi, C., Grunseich, C., Sevrioukova, I.F., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., Landoure, G., Kennerson, M.L., Burnett, B.G., Bonnemann, C., Biesecker, L.G., Ghezzi, D., Zeviani, M., Fischbeck, K.H.
Am.J.Hum.Genet.
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