SDHD

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

Description

Succinate dehydrogenase complex subunit D

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Citric acid cycle related proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

11 (112086824 - 112120016)

Ensembl ID

ENSG00000204370  (ver. 103.38)

Orthologs

-

UniProt

O14521

neXtProt

NX_O14521

Human splice variants

Protein structure