SDHD Gene Summary [Human]
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SDHD |
| Official Name | succinate dehydrogenase complex subunit D [Source:HGNC Symbol;Acc:HGNC:10683] |
| Ensembl ID | ENSG00000204370 |
| Bio databases IDs | |
| Aliases | succinate dehydrogenase complex subunit D, small subunit of cytochrome b |
| Synonyms | 3110001M13RIK, AVLL5809, C78570, CBT1, CII-4, CWS3, cybS, MC2DN3, PGL, PGL1, PPGL1, PRO19626, QPs3, SDH4, SDHD1, succinate dehydrogenase complex subunit D, succinate dehydrogenase complex, subunit D, integral membrane protein |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SDHD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- electron carrier
- CybS, succinate dehydrogenase cytochrome B small subunit
- SQR_QFR_TM
- ubiquinone binding
- protein binding activity, bridging
- enzyme
- protein binding
- heme binding
- succinate dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the SDHD gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- paraganglioma type 3
- ACTH producing cell hyperplasia
- C cell hyperplasia
- paraganglioma type 1
- pheochromocytoma
- pheochromocytoma formation
- organismal death
- hereditary cancer-predisposing syndrome
- abdominal paraganglioma formation
- paraganglioma formation
role in cell
- apoptosis
- activation in
- growth
- function
- invasiveness
- enlargement
- response by
- glycolysis in
- enlargement in
- mitochondrial respiration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- mitochondrial envelope
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SDHD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of catecholamine secretion
- mitochondrial electron transport, succinate to ubiquinone
- tricarboxylic acid cycle
- cellular response to hypoxia
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex II
- mitochondrion
- mitochondrial envelope
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- succinate dehydrogenase (ubiquinone) activity
- metal ion binding
- electron carrier activity
- ubiquinone binding
- heme binding