SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)
2002-04-01 Anne-Paule Gimenez-Roqueplo AffiliationDépartement de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France
Identity
HGNC
LOCATION
1q23.3
LOCUSID
ALIAS
CYB560,CYBL,PGL3,QPS1,SDH3
FUSION GENES
DNA/RNA
Description
1180 bp, 6 exons
Proteins
Expression
widely expressed
Localisation
mitochondrial inner membrane
Function
Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit C protein or large subunit (cybL) is one of two integral membrane proteins anchoring the complex to membrane.
Mutations
Germinal
Germline mutations cause hereditary paraganglioma. At this time, an unique mutation which destroyed the initial site of traduction (ATG, start codon) of SDHC gene has been reported in a family with a hereditary paraganglioma.
Somatic
Loss of wild type allele in tumor DNA is usually observed.
Implicated in
Entity name
Hereditary paraganglioma type 3
Note
Alias: Familial non chromaffin paragangliomas 3; Familial glomus tumor
Disease
Hereditary paraganglioma type 3 (PGL3) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benign, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum).
Prognosis
It depends on extent of the disease at the time of diagnosis.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11897817 | 2002 | Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. | Baysal BE et al |
| 9714607 | 1998 | Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria. | Elbehti-Green A et al |
| 9533030 | 1997 | Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. | Hirawake H et al |
| 11426453 | 2001 | Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. | Niemann S et al |
| 11062460 | 2000 | Mutations in SDHC cause autosomal dominant paraganglioma, type 3. | Niemann S et al |
Other Information
Locus ID:
NCBI: 6391
MIM: 602413
HGNC: 10682
Ensembl: ENSG00000143252
Variants:
dbSNP: 6391
ClinVar: 6391
TCGA: ENSG00000143252
COSMIC: SDHC
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA165543618 | SDHAF2 | Gene | DataAnnotation | associated | |||
| PA35606 | SDHB | Gene | DataAnnotation | associated | |||
| PA35608 | SDHD | Gene | DataAnnotation | associated | |||
| PA445229 | Paraganglioma | Disease | DataAnnotation | associated | |||
| PA445315 | Pheochromocytoma | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33624983 | 2021 | SDHC Methylation Pattern in Patients With Carney Triad. | 0 |
| 33624983 | 2021 | SDHC Methylation Pattern in Patients With Carney Triad. | 0 |
| 31492822 | 2020 | Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. | 11 |
| 31492822 | 2020 | Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. | 11 |
| 31278950 | 2019 | SDHC-related deficiency of SDH complex activity promotes growth and metastasis of hepatocellular carcinoma via ROS/NFκB signaling. | 27 |
| 31278950 | 2019 | SDHC-related deficiency of SDH complex activity promotes growth and metastasis of hepatocellular carcinoma via ROS/NFκB signaling. | 27 |
| 29126304 | 2018 | SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas. | 9 |
| 29386252 | 2018 | Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. | 91 |
| 29126304 | 2018 | SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas. | 9 |
| 29386252 | 2018 | Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. | 91 |
| 27485256 | 2017 | Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma. | 3 |
| 29107296 | 2017 | Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants. | 32 |
| 27485256 | 2017 | Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma. | 3 |
| 29107296 | 2017 | Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants. | 32 |
| 26490314 | 2016 | In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma. | 30 |
Citation
Anne-Paule Gimenez-Roqueplo
SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)
Atlas Genet Cytogenet Oncol Haematol. 2002-04-01
Online version: http://atlasgeneticsoncology.org/gene/389/fpr1-(formyl-peptide-receptor-1)
