Official Symbol

SDHDprovided by HGNC

Official Full Name

succinate dehydrogenase complex, subunit D, integral membrane proteinprovided by HGNC

Primary source

HGNC:10683

See related

Ensembl:ENSG00000204370; HPRD:04069; MIM:602690

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

PGL; CBT1; PGL1; SDH4; SDHD

Summary

Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The subunit D protein is one of two integral membrane proteins anchoring the complex to the matrix side of the membrane. Mutations in SDHD have been linked to hereditary paraganglioma. [provided by RefSeq]

Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 11; Location: 11q23See SDHD in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

1. Observational study of gene-disease association. (HuGE Navigator)

2. analysis of germline mutations and variants in the succinate dehydrogenase genes SDHB and SDHD in Cowden and Cowden-like syndromes

3. Observational study of gene-disease association. (HuGE Navigator)

4. SDHD mutation in sporadic head and neck paraganglioma

5. Observational study of gene-disease association. (HuGE Navigator)

6. Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

7. Observational study of genotype prevalence. (HuGE Navigator)

8. Observational study of gene-disease association. (HuGE Navigator)

9. Observational study of gene-disease association. (HuGE Navigator)

10. Observational study of genotype prevalence. (HuGE Navigator)

11. Observational study of gene-disease association. (HuGE Navigator)

12. Observational study of gene-disease association. (HuGE Navigator)

13. Observational study of gene-disease association. (HuGE Navigator)

14. Observational study of genotype prevalence. (HuGE Navigator)

15. Observational study of genotype prevalence. (HuGE Navigator)

16. investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight, from 7 unrelated families, the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively)

17. Results describe copy number aberrations in the SDHD and MMP12 genes in an affected Solar Keratosis and control cohort.

18. study showed SDHD germ-line mutations are rare in patients with pheochromocytoma

19. mutation not found in Chinese patients with sporadic pheochromocytoma/paraganglioma

20. prevalence of paragangliomas in carriers of D92Y mutations is at least 2.5%.

21. familial gastrointestinal stromal tumors may be caused by mutations of the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD

22. Two novel SDH mutations in Japanese pheochromocytomas.

23. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

24. Loss of chromosome 11 regions, including the deletion of PGL1 and PGL2 loci, may result in a severe phenotype, as exemplified by the development of paraganglioma.

25. Pseudo-hypoxia can be observed in SDH-suppressed cells in the absence of oxidative stress and in the presence of effective antioxidant treatment.

26. Review. Succinate dehydrogenase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzyme causes a predisposition to inherited neoplasia syndromes.

27. Germ-line mutation in SDHD is associated with parasympathetic paraganglioma

28. Alterations of the SDHD gene are involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas.

29. Germline mutation on the SDHD gene was present in patients with pheochromocytoma or functional paraganglioma.

30. A possible role for SDH polymorphism as susceptibility/disease modifying factors in familial and sporadic medullary thyroid carcinomas was shown.

31. The genes most frequently implicated: SDHD and SDHB, also predispose to phaeochromocytoma. SDHD shows a complex inheritance pattern - tumours do not develop if the mutation is inherited from the mother.

32. germline mutation in the succinate dehydrogenase subunit D (SDHD) gene

33. identification of novel mutations in patients with phaeochromocytoma and/or paraganglioma

34. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect.

35. SDHD may have a role in colorectal and gastric cancers as a distinct type of tumor suppressor

36. R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

Markers

Phenotypes

Pathways

Homology

GeneOntology Provided by GOA

Preferred Names

succinate dehydrogenase complex, subunit D

Names

succinate dehydrogenase complex, subunit D

succinate dehydrogenase ubiquinone cytochrome B small subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

RefSeqs of Annotated Genomes: Build 36.3

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference assembly

Genomic

Alternate assembly (based on Celera assembly)

Genomic

Alternate assembly (based on HuRef)

Genomic