SDHAF1 (succinate dehydrogenase complex assembly factor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 644096
Gene name Succinate dehydrogenase complex assembly factor 1
Gene symbol SDHAF1
Synonyms (NCBI Gene)
LYRM8MC2DN2
Chromosome 19
Chromosome location 19q13.12
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
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs137853192 G>C Pathogenic Coding sequence variant, missense variant
rs137853193 G>A,C Pathogenic Coding sequence variant, missense variant
rs768768823 C>A Pathogenic Coding sequence variant, stop gained
rs1085307492 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
57
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (57)
miRTarBase ID miRNA Experiments Reference
MIRT521175 hsa-miR-3186-5p PAR-CLIP 23446348
MIRT521174 hsa-miR-1295b-3p PAR-CLIP 23446348
MIRT521173 hsa-miR-1273g-3p PAR-CLIP 23446348
MIRT521172 hsa-miR-3176 PAR-CLIP 23446348
MIRT521171 hsa-miR-3922-3p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24606901, 26749241, 28380382, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 19465911
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612848 33867 ENSG00000205138
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NFY7
Protein name Succinate dehydrogenase assembly factor 1, mitochondrial (SDH assembly factor 1) (SDHAF1) (LYR motif-containing protein 8)
Protein function Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chai
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05347 Complex1_LYR 9 → 63 Complex 1 protein (LYR family) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:19465911}.
Sequence 
MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQ
LQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR
Sequence length 115
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex 2 deficiency, nuclear type 2 Pathogenic; Likely pathogenic rs1976655209, rs137853192, rs137853193, rs1397859218, rs768768823, rs2514019854, rs1085307492 RCV001328003
RCV000000457
RCV000000458
RCV002272980
RCV002272202
RCV003494054
RCV001328002
Mitochondrial complex II deficiency, nuclear type 1 Likely pathogenic; Pathogenic rs768768823 RCV001332725
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SDHAF1-related disorder Likely benign rs752619760 RCV003935688
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Fetal Alcohol Spectrum Disorders Associate 37047575
Leukemia Myeloid Acute Associate 35994381
Leukoencephalopathies Associate 22972948, 22995659, 26749241
Mitochondrial Complex II Deficiency Associate 22995659, 26749241
Mitochondrial Diseases Associate 34012134