Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein,15-KD

Alternative Names

  • SDHC
  • Succinate Dehydrogenase 3, Integral Membrane Subunit
  • SDH3
  • Succinate Dehydrogenase Cytochrome b
Back to search Result
OMIM Number

602413

NCBI Gene ID

6391

Uniprot ID

Q99643

Length

60,960 bases

No. of Exons

7

No. of isoforms

5

Protein Name

Succinate dehydrogenase cytochrome b560 subunit, mitochondrial

Molecular Mass

18610 Da

Amino Acid Count

169

Genomic Location

chr1:161,314,381-161,375,340

Gene Map Locus
1q23.3

Description

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003001.5:c.31C>T Lebanonchr1:161323624Uncertain SignificanceBreast CancerNG_012767.1:g.14249C>T; NM_003001.5:c.31C>T ; NP_002992.1:p.Arg11Cys759914119577853
© CAGS 2024. All rights reserved.