SDHAF2 succinate dehydrogenase complex assembly factor 2
Gene ID: 54949, updated on 5-Mar-2024Gene type: protein coding
Also known as: PGL2; SDH5; PPGL2; hSDH5; C11orf79
- See all available tests in GTR for this gene
- Go to complete Gene record for SDHAF2
- Go to Variation Viewer for SDHAF2 variants
Summary
This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Paragangliomas 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-05-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 11q12.2
- Sequence:
- Chromosome: 11; NC_000011.10 (61430124..61446733)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SDHAF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SDHAF2 @ LOVD
- Variation ViewerRelated Variants
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