• Gene id: 6391

Gene Summary

• Gene Symbol: SDHC   Gene   UCSC   Ensembl
• Aliases: CYB560, CYBL, PGL3, QPS1, SDH3
• Gene name: succinate dehydrogenase complex subunit C
• Alternate names: succinate dehydrogenase cytochrome b560 subunit, mitochondrial, cytochrome B large subunit of complex II, integral membrane protein CII-3b, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase 3, integral membrane subunit,
• Gene location: 1q23.3 (161314380: 161375339)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603790

Protein Summary

• Protein general information: Q99643  
  • Name: Succinate dehydrogenase cytochrome b560 subunit, mitochondrial (Integral membrane protein CII 3) (QPs 1) (QPs1) (Succinate dehydrogenase complex subunit C) (Succinate ubiquinone oxidoreductase cytochrome B large subunit) (CYBL)
  • Length: 169  
  • Mass: 18610
• Sequence:

  MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSICHRGTG
  IALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLGKGLKIPQLYQ
  SGVVVLVLTVLSSMGLAAM

• Structural information:
  • Interpro: IPR034804  IPR018495  IPR014314  IPR000701  
  • Prosite: PS01000 PS01001
  • STRING: ENSP00000356953
• Other Databases: GeneCards:  SDHC  Malacards:  SDHC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005749	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	IBA	cellular component
GO:0006121	mitochondrial electron transport, succinate to ubiquinone	IBA	biological process
GO:0020037	heme binding	ISS	molecular function
GO:0005749	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	ISS	cellular component
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0045281	succinate dehydrogenase complex	IEA	cellular component
GO:0000104	succinate dehydrogenase activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0045273	respiratory chain complex II	TAS	cellular component
GO:0009060	aerobic respiration	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa01200	Carbon metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Malignant paraganglioma	KEGG:H01510
Paraganglioma	PMID:11062460
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq