SDHD
Sign in to saveAlso known as cybS, CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the SDHD gene. Names previously used for SDHD were PGL and PGL1. Succinate dehydrogenase is an important enzyme in both the citric acid cycle and the electron transport chain. Hereditary PGL-PCC syndrome is caused by a parental imprint of the SDHD gene. Screening can begin by 6 years of age.
Gene data
SDHD- Name
- succinate dehydrogenase complex subunit D
- Type
- protein-coding
- Aliases
- CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS
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].
via MyGene.info
Gene · Ensembl
succinate dehydrogenase complex subunit D
- Symbol
- SDHD
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:112,086,361-112,120,016
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- SuccDeh.svg
Show 5 more facts
- HomoloGene ID
- 37718
- exact match
- identifiers.org/ncbigene/6392
- genomic end
- 112120016
- genomic start
- 112086824
- cytogenetic location
- 11q23.1
Sources (7)
via Wikidata · CC0
~6 min read
Article
7 sectionsContents
- Structure
- Function
- Clinical significance
- Interactive pathway map
- References
- Further reading
- External links
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the SDHD gene. Names previously used for SDHD were PGL and PGL1. Succinate dehydrogenase is an important enzyme in both the citric acid cycle and the electron transport chain. Hereditary PGL-PCC syndrome is caused by a parental imprint of the SDHD gene. Screening can begin by 6 years of age.
== Structure == The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. The SDHD gene produces a 17 kDa protein composed of 159 amino acids.