SDHAF1 succinate dehydrogenase complex assembly factor 1

Gene ID: 644096, updated on 5-Mar-2024
Gene type: protein coding
Also known as: LYRM8; MC2DN2

Summary

The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Mitochondrial complex 2 deficiency, nuclear type 2 MedGen: C5436933OMIM: 619166GeneReviews: Not available	See labs

Genomic context

Location:: 19q13.12

Sequence:: Chromosome: 19; NC_000019.10 (35995188..35996312)

Total number of exons:: 1

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SDHAF1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SDHAF1 database
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.