SDHAF2
entrez
54949
canonical
uniprot
Q9NX18
canonical
ensembl
ENSG00000167985
resolver
ensp
ENSP00000301761
resolver
enst
ENST00000301761
resolver
genesymbol
SDHAF2
resolver
genesymbol_syn
C11orf79
resolver
genesymbol_syn
PGL2
resolver
genesymbol_syn
SDH5
resolver
hgnc
HGNC:26034
resolver
uniprot_entry
SDHF2_HUMAN
resolver
amino_acid_sequence
MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESRKRGMLENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEYLFEKPR
uniprot
proteins
disease_involvement
DISEASE: Pheochromocytoma/paraganglioma syndrome 2 (PPGL2) [MIM:601650]: A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL2 inheritance is autosomal dominant. {ECO:0000269|PubMed:19628817}. 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. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer. {ECO:0000255|HAMAP-Rule:MF_03057, ECO:0000269|PubMed:19628817, ECO:0000269|PubMed:32887801}.
uniprot
proteins
mass_dalton
19599
uniprot
proteins
protein_family
SDHAF2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19628817
uniprot
proteins
pubmed
32887801
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03057, ECO:0000269|PubMed:19628817}.
uniprot
proteins