SDHAF1
entrez
644096
canonical
uniprot
A6NFY7
canonical
ensembl
ENSG00000205138
resolver
ensp
ENSP00000368165
resolver
enst
ENST00000378887
resolver
genesymbol
SDHAF1
resolver
genesymbol_syn
LYRM8
resolver
hgnc
HGNC:33867
resolver
uniprot
B2RPM7
resolver
uniprot_entry
SDHF1_HUMAN
resolver
uniprot_sec
B2RPM7
resolver
amino_acid_sequence
MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQLQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) [MIM:619166]: A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN2 inheritance is autosomal recessive. {ECO:0000269|PubMed:19465911, ECO:0000269|PubMed:22995659, ECO:0000269|PubMed:26642834, ECO:0000269|PubMed:26749241}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:19465911, PubMed:24954417). Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants (PubMed:24954417). May act together with SDHAF3 (PubMed:24954417). Contributes to iron-sulfur cluster incorporation into SDHB by binding to SDHB and recruiting the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). {ECO:0000269|PubMed:19465911, ECO:0000269|PubMed:24954417, ECO:0000269|PubMed:26749241}.
uniprot
proteins
mass_dalton
12806
uniprot
proteins
mutagenesis
MUTAGEN 14..16; /note="LYR->AAA: Abolishes interaction with the iron-sulfur transfer complex composed of HSC20, HSPA9 and ISCU and reduces binding to SDHB."; /evidence="ECO:0000269|PubMed:26749241"; MUTAGEN 53..55; /note="LYR->AAA: Retains reduced ability to interact with HSC20 and SDHB."; /evidence="ECO:0000269|PubMed:26749241
uniprot
proteins
protein_family
Complex I LYR family
uniprot
proteins
protein_family
SDHAF1 subfamily
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19465911
uniprot
proteins
pubmed
22995659
uniprot
proteins
pubmed
24954417
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26642834
uniprot
proteins
pubmed
26749241
uniprot
proteins
sequence_length
115
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:19465911}.
uniprot
proteins