LP31865-6
SDHD gene
Active
Description
The SDHD gene (succinate dehydrogenase complex, subunit D, integral membrane protein) [HGNC Gene ID:10683] is located on chromosome 11q23. 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] [NCBI Gene ID:6392] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- SDHD gene
- Part Display Name
- SDHD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- SDHD gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SDHD 基因 Synonyms: PGL; |
| et-EE | Estonian (Estonia) | SDHD geen |
| es-ES | Spanish (Spain) | Gen SDHD |
| it-IT | Italian (Italy) | SDHD, gene Synonyms: Gene SDHD |
| tr-TR | Turkish (Turkey) | SDHD geni |
| ru-RU | Russian (Russian Federation) | SDHD ген |
| nl-NL | Dutch (Netherlands) | SDHD-gen Synonyms: SDHD gen |
LOINC Copyright
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