HuLPr50115

Uniprot ID

SDHF1_HUMAN

Uniprot Acc

A6NFY7;B2RPM7;

Protein name

Succinate dehydrogenase assembly factor 1, mitochondrial

Comment

FUNCTION: Plays an essential role in succinate dehydrogenase complex (SDH) assembly, a complex involved in complex II of the mitochondrial electron transport chain. Probably acts by participating in mitochondrial biosynthesis of iron-sulfur centers for complex II (Probable).||PATHWAY: Cofactor biosynthesis; iron-sulfur cluster biosynthesis.||SUBCELLULAR LOCATION: Mitochondrion matrix (Probable).||TISSUE SPECIFICITY: Ubiquitously expressed.||DISEASE: Defects in SDHAF1 are a cause of mitochondrial complex II deficiency (MT-C2D) [MIM:252011]; also known as SDH-defective infantile leukoencephalopathy. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. 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.||SIM

Subcellular localization

Mitochondrion matrix (Probable).

Gene name

succinate dehydrogenase complex assembly factor 1

Protein sequence

MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHA GLPRSDVLRIEYLYRRGRRQLQLLRSGHATAMGAFVRPR APTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR

Database cross reference

RefSeq Protein accession:NP_001036096
RefSeq Protein gi:111038124

GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.

GO-P

GO:0016226; P:iron-sulfur cluster assembly; NAS:UniProtKB. GO:0034553; P:mitochondrial respiratory chain complex II assembly; IMP:UniProtKB.