Gene: SDHAF1

Alternate names for this Gene: LYRM8

Gene Summary: The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: succinate dehydrogenase complex assembly factor 1

Type of Gene: protein-coding

rs137853192 in SDHAF1 gene and Mitochondrial Complex II Deficiency PMID 22995659 2012 Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

PMID 26749241 2016 Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

PMID 19465911 2009 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.