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Gene Model: Sdhc

NomenclatureGenomic Location
SymbolSdhcChromosome2
NameSuccinate dehydrogenase
cytochrome b560 subunit,
mitochondrial		Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 1 Mbp

Molecular Function

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   oxidoreductase activity
      oxidoreductase activity, acting on the CH-CH group of donors

electron carrier activity

Human Disease Association

Defects in SDHC are the cause of hereditary paragangliomas type 3 (PGL3) [MIM:605373]; also known as autosomal dominant non-chromaffin paragangliomas type 3. Non-chromaffin paragangliomas are usually benign, neural crest derived tumors of parasympathetic ganglia.

Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also known as Carney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.

Predicted Transcript
     1 ACTTCTTTCTTTCTTCTCTCTTCCAGGTGGTCTCTGCCCATGATGATGTCCATTTCTCAT
    61 CGTGGCACAGGGGTCGCAATGAGCTTAGGAGTGTCACTCTTCGGCTTAAGCGCTTTGGTG
   121 CTTCCCGGGCATTTTGCTGACTACCTGGACCTCATCCGGTCTCTGAGCCTGGGTCCTGTT
   181 CTTATATATTCCGCAAAGTTTGCCCTGGCGTTCCCCTTGTCCTTCCACACTTGGAACGGA
   241 ATCCGGCATCTGGCCTGGGACATGGGCAAAGGATTCAAGATCCCGCAGGTCTACCAGTCT
   301 GGGGTCCTTGTCCTCGTCTTGACGGTTTTGTCCTCCGTTGGAATTGCAGCCATGTAA

Predicted Protein Product
TSFFLLSSRWSLPMMMSISHRGTGVAMSLGVSLFGLSALVLPGHFADYLDLIRSLSLGPV
LIYSAKFALAFPLSFHTWNGIRHLAWDMGKGFKIPQVYQSGVLVLVLTVLSSVGIAAM
Protein Alignment to Mouse
sp|Q9CZB0|C560_MOUSE Succinate dehydrogenase cytochrome b560 subunit,
            mitochondrial OS=Mus musculus GN=Sdhc PE=2 SV=1
      MGI:1913302 Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein (Chr 1)
        Length = 169

 Score = 335 (123.0 bits), Expect = 4.8e-31, P = 4.8e-31
 Identities = 60/90 (66%), Positives = 74/90 (82%)

Query:     9 RWSLPMMMSISHRGTGVAMSLGVSLFGLSALVLPGHFADYLDLIRSLSLGPVLIYSAKFA 68
             +WSLPM +S+ HRG+G+A+S GVSLFGLSAL+LPG+F  YL  ++SL LGP LIYSAKF 
Sbjct:    60 KWSLPMALSVCHRGSGIALSGGVSLFGLSALLLPGNFESYLMFVKSLCLGPTLIYSAKFV 119

Query:    69 LAFPLSFHTWNGIRHLAWDMGKGFKIPQVY 98
             L FPL +H+ NGIRHL WD+GKG  IPQV+
Sbjct:   120 LVFPLMYHSLNGIRHLLWDLGKGLAIPQVW 149