SDHAF1
gene geneOn this page
Also known as LYRM8
Summary
SDHAF1 (succinate dehydrogenase complex assembly factor 1, HGNC:33867) is a protein-coding gene on chromosome 19q13.12, encoding Succinate dehydrogenase assembly factor 1, mitochondrial (A6NFY7). 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 chain, and which couples the oxidation…. It is a selective cancer dependency (DepMap: 14.2% of cell lines).
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).
Source: NCBI Gene 644096 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +4 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 39 total
- Phenotypes (HPO): 56
- Cancer dependency (DepMap): dependent in 14.2% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_001042631
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33867 |
| Approved symbol | SDHAF1 |
| Name | succinate dehydrogenase complex assembly factor 1 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LYRM8 |
| Ensembl gene | ENSG00000205138 |
| Ensembl biotype | protein_coding |
| OMIM | 612848 |
| Entrez | 644096 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000378887
RefSeq mRNA: 1 — MANE Select: NM_001042631
NM_001042631
CCDS: CCDS32999
Canonical transcript exons
ENST00000378887 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001479154 | 35995188 | 35996312 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 94.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0912 / max 94.9461, expressed in 1790 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175450 | 13.0912 | 1790 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 94.53 | silver quality |
| olfactory bulb | UBERON:0002264 | 90.95 | silver quality |
| parotid gland | UBERON:0001831 | 89.93 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.31 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.25 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.18 | silver quality |
| vena cava | UBERON:0004087 | 88.86 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 88.14 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.13 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 87.91 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 87.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.69 | gold quality |
| body of tongue | UBERON:0011876 | 87.55 | gold quality |
| diaphragm | UBERON:0001103 | 87.54 | silver quality |
| pons | UBERON:0000988 | 87.53 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.38 | gold quality |
| cerebellar vermis | UBERON:0004720 | 87.37 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.16 | gold quality |
| granulocyte | CL:0000094 | 87.07 | gold quality |
| cerebellum | UBERON:0002037 | 87.01 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 86.83 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 86.82 | gold quality |
| cardia of stomach | UBERON:0001162 | 86.34 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.30 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.18 | gold quality |
| apex of heart | UBERON:0002098 | 86.14 | gold quality |
| lower esophagus | UBERON:0013473 | 86.14 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting SDHAF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-3938 | 98.72 | 66.07 | 834 |
| HSA-MIR-3179 | 98.22 | 65.90 | 1445 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-937-5P | 97.43 | 68.39 | 667 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
| HSA-MIR-4793-3P | 94.87 | 65.85 | 896 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 14.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- Leukoencephalopathy with accumulated succinate is a key symptom of defective complex II assembly due to SDHAF1 mutations (PMID:22995659)
- Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade. (PMID:23174333)
- that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB. (PMID:26749241)
- Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens. (PMID:35078991)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sdhaf1 | ENSMUSG00000074211 |
| rattus_norvegicus | Sdhaf1 | ENSRNOG00000047045 |
Paralogs (1): LYRM4 (ENSG00000214113)
Protein
Protein identifiers
Succinate dehydrogenase assembly factor 1, mitochondrial — A6NFY7 (reviewed: A6NFY7)
Alternative names: LYR motif-containing protein 8
All UniProt accessions (1): A6NFY7
UniProt curated annotations — full annotation on UniProt →
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 chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF3. Contributes to iron-sulfur cluster incorporation into SDHB by binding to SDHB and recruiting the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20.
Subunit / interactions. Interacts with SDHB within an SDHA-SDHB subcomplex. Also interacts with the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20. Binding of SDHAF1 to SDHB precedes and is necessary for recruitment of the iron-sulfur transfer complex by SDHAF1.
Subcellular location. Mitochondrion matrix.
Tissue specificity. Ubiquitously expressed.
Disease relevance. Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) [MIM:619166] A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Riboflavin supplementation, which is used as a treatment in SDHAF1-deficient patients, enhances SDHA flavinylation and activity and reduces levels of HIF1A, HIF2A and succinate.
Similarity. Belongs to the complex I LYR family. SDHAF1 subfamily.
RefSeq proteins (1): NP_001036096* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008011 | Complex1_LYR_dom | Domain |
| IPR045295 | Complex1_LYR_SDHAF1_LYRM8 | Domain |
| IPR052687 | SDHAF1 | Family |
Pfam: PF05347
UniProt features (14 total): sequence variant 6, region of interest 2, mutagenesis site 2, short sequence motif 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A6NFY7-F1 | 77.46 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 14–16 | abolishes interaction with the iron-sulfur transfer complex composed of hsc20, hspa9 and iscu and reduces binding to sdh |
| 53–55 | retains reduced ability to interact with hsc20 and sdhb. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9854311 | Maturation of TCA enzymes and regulation of TCA cycle |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-71403 | Citric acid cycle (TCA cycle) |
MSigDB gene sets: 223 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_4HR, HAN_SATB1_TARGETS_DN, GOCC_MITOCHONDRIAL_MATRIX, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, FOSTER_KDM1A_TARGETS_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNAR_KO_DN, ARNT2_TARGET_GENES, CEBPZ_TARGET_GENES, CREB3L4_TARGET_GENES, HOXC6_TARGET_GENES, ZNF30_TARGET_GENES
GO Biological Process (1): mitochondrial respiratory chain complex II assembly (GO:0034553)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Citric acid cycle (TCA cycle) | 1 |
| Metabolism | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| mitochondrial respiratory chain complex assembly | 1 |
| respiratory chain complex II assembly | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
848 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SDHAF1 | SDHA | P31040 | 996 |
| SDHAF1 | SDHB | P21912 | 959 |
| SDHAF1 | F5H5T6 | F5H5T6 | 941 |
| SDHAF1 | SDHD | O14521 | 940 |
| SDHAF1 | SDHAF2 | Q9NX18 | 927 |
| SDHAF1 | SDHC | Q99643 | 922 |
| SDHAF1 | SDHAF3 | Q9NRP4 | 899 |
| SDHAF1 | SDHAF4 | Q5VUM1 | 835 |
| SDHAF1 | HSCB | Q8IWL3 | 755 |
| SDHAF1 | LYRM7 | Q5U5X0 | 728 |
| SDHAF1 | LYRM4 | Q9HD34 | 717 |
| SDHAF1 | HSPA9 | P30036 | 700 |
| SDHAF1 | ISCU | Q9H1K1 | 693 |
| SDHAF1 | LYRM9 | A8MSI8 | 594 |
| SDHAF1 | NFU1 | Q9UMS0 | 574 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDHAF1 | SDHB | psi-mi:“MI:0914”(association) | 0.790 |
| SDHAF1 | SDHB | psi-mi:“MI:0915”(physical association) | 0.790 |
| SDHAF1 | SDHB | psi-mi:“MI:0407”(direct interaction) | 0.790 |
| SDHB | SDHAF1 | psi-mi:“MI:0914”(association) | 0.790 |
| SDHB | SDHAF1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| SDHAF1 | HSCB | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| HSCB | SDHAF1 | psi-mi:“MI:0914”(association) | 0.750 |
| SDHAF1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SDHAF1 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDHAF1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| SDHAF1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDHAF1 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| SDHAF1 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SDHAF1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): SDHAF1 (Two-hybrid), SDHAF1 (Two-hybrid), SDHAF1 (Two-hybrid), SDHAF1 (Affinity Capture-MS), SDHAF1 (Affinity Capture-MS), SDHAF1 (Affinity Capture-MS), SDHAF1 (Positive Genetic), NDUFAB1 (Affinity Capture-MS), SDHA (Affinity Capture-MS), SDHB (Affinity Capture-MS)
ESM2 similar proteins: A1A4I4, A2SXS5, A5PJV8, A6NFY7, A6QPI4, A8PU71, B0K036, O00192, O00255, O02718, O43189, O60232, O75208, O88559, P12755, P83369, Q0P5I0, Q16512, Q2KJ58, Q2NL34, Q32Q90, Q3MII6, Q3U276, Q504T8, Q5C9Z4, Q5QQ50, Q5RB75, Q5T6X4, Q68EN5, Q6DVA0, Q6WVG3, Q7T076, Q7Z6J2, Q86UD0, Q86UK7, Q8CEG5, Q8IVD9, Q8N6N2, Q8NC56, Q8QZV0
Diamond homologs: A6NFY7, A8PU71, B0K036, Q3U276, A6ZYX9, Q3E785, Q54HG5, Q55BM0, Q9US02
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
164 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35995990:T:TA | acceptor_gain | 0.7500 |
| 19:35995990:TG:T | acceptor_gain | 0.7100 |
| 19:35995991:G:GC | acceptor_gain | 0.7100 |
| 19:35995959:G:GT | donor_gain | 0.6400 |
| 19:35995665:G:GT | donor_gain | 0.5900 |
| 19:35996019:G:GT | donor_gain | 0.5300 |
| 19:35995923:A:C | acceptor_gain | 0.5200 |
| 19:35995989:CTG:C | acceptor_gain | 0.5200 |
| 19:35996048:G:GC | acceptor_gain | 0.5200 |
| 19:35995831:GGAGA:G | acceptor_gain | 0.5000 |
| 19:35995961:A:T | donor_gain | 0.4900 |
| 19:35995960:G:T | donor_gain | 0.4800 |
| 19:35996049:AGAAG:A | acceptor_gain | 0.4800 |
| 19:35995988:CCTG:C | acceptor_gain | 0.4600 |
| 19:35996082:G:T | donor_gain | 0.4600 |
| 19:35995830:TGGAG:T | acceptor_gain | 0.4500 |
| 19:35995921:CGAAG:C | donor_loss | 0.4500 |
| 19:35995922:GAAG:G | donor_loss | 0.4500 |
| 19:35995923:AAG:A | donor_loss | 0.4500 |
| 19:35995924:AG:A | donor_loss | 0.4500 |
| 19:35995925:GGT:G | donor_loss | 0.4500 |
| 19:35995926:G:GC | donor_loss | 0.4500 |
| 19:35995927:T:G | donor_loss | 0.4500 |
| 19:35996044:CTCTG:C | acceptor_gain | 0.4400 |
| 19:35995302:C:T | donor_gain | 0.4300 |
| 19:35996039:T:G | acceptor_gain | 0.4300 |
| 19:35996050:G:GT | donor_gain | 0.4300 |
| 19:35995940:G:GT | donor_gain | 0.4200 |
| 19:35996043:A:G | acceptor_gain | 0.4200 |
| 19:35995928:A:C | donor_loss | 0.4100 |
AlphaMissense
718 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:35995381:T:C | F36S | 0.995 |
| 19:35995380:T:C | F36L | 0.994 |
| 19:35995382:C:A | F36L | 0.994 |
| 19:35995382:C:G | F36L | 0.994 |
| 19:35995437:C:A | R55S | 0.986 |
| 19:35995426:A:T | E51V | 0.985 |
| 19:35995381:T:G | F36C | 0.981 |
| 19:35995497:T:C | F75L | 0.981 |
| 19:35995499:C:A | F75L | 0.981 |
| 19:35995499:C:G | F75L | 0.981 |
| 19:35995327:T:C | L18P | 0.979 |
| 19:35995443:G:T | G57W | 0.976 |
| 19:35995444:G:A | G57E | 0.975 |
| 19:35995450:G:C | R59P | 0.975 |
| 19:35995425:G:A | E51K | 0.974 |
| 19:35995438:G:C | R55P | 0.972 |
| 19:35995441:G:C | R56P | 0.972 |
| 19:35995317:T:G | Y15D | 0.971 |
| 19:35995298:G:C | Q8H | 0.969 |
| 19:35995298:G:T | Q8H | 0.969 |
| 19:35995427:G:C | E51D | 0.969 |
| 19:35995427:G:T | E51D | 0.969 |
| 19:35995443:G:A | G57R | 0.967 |
| 19:35995443:G:C | G57R | 0.967 |
| 19:35995335:G:C | A21P | 0.961 |
| 19:35995432:T:C | L53P | 0.958 |
| 19:35995444:G:T | G57V | 0.957 |
| 19:35995456:T:C | L61P | 0.957 |
| 19:35995287:A:C | S5R | 0.954 |
| 19:35995289:C:A | S5R | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1000071321 (19:35996285 A>C,G), RS1000123444 (19:35996537 C>T), RS1001072788 (19:35994919 T>C), RS1001123544 (19:35995169 G>A,C), RS1002072313 (19:35993776 G>A), RS1002124591 (19:35994012 G>A), RS1003625924 (19:35996103 G>A), RS1004082498 (19:35994254 C>A,T), RS1004084892 (19:35995798 G>T), RS1004434146 (19:35994068 G>T), RS1007594479 (19:35994567 C>A), RS1007748077 (19:35996544 C>T), RS1008093624 (19:35995058 G>A,T), RS1009551595 (19:35994894 C>A), RS1010242572 (19:35994592 C>T)
Disease associations
OMIM: gene MIM:612848 | disease phenotypes: MIM:252011, MIM:619166
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial complex 2 deficiency, nuclear type 2 | Definitive | Autosomal recessive |
| mitochondrial complex II deficiency, nuclear type 1 | Strong | Autosomal recessive |
| mitochondrial complex II deficiency | Moderate | Autosomal recessive |
ClinGen Gene-Disease Validity (2)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Leigh syndrome | Limited | AR |
| mitochondrial disease | Definitive | AR |
Mondo (3): mitochondrial complex II deficiency, nuclear type 1 (MONDO:0100294), mitochondrial complex 2 deficiency, nuclear type 2 (MONDO:0030935), (MONDO:0009641)
Orphanet (1): Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
HPO phenotypes
56 total (30 of 56 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000478 | Abnormality of the eye |
| HP:0000544 | External ophthalmoplegia |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000618 | Blindness |
| HP:0000639 | Nystagmus |
| HP:0000726 | Dementia |
| HP:0000737 | Irritability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001270 | Motor delay |
| HP:0001285 | Spastic tetraparesis |
| HP:0001290 | Generalized hypotonia |
| HP:0001510 | Growth delay |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001824 | Weight loss |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002313 | Spastic paraparesis |
| HP:0002333 | Motor deterioration |
| HP:0002352 | Leukoencephalopathy |
| HP:0002359 | Frequent falls |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002474 | Expressive language delay |
| HP:0002505 | Loss of ambulation |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011352_10 | Alanine aminotransferase levels | 6.000000e-09 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565375 | Mitochondrial Complex II Deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Leflunomide | decreases expression | 2 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Methyl Methanesulfonate | decreases expression, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Adenine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Colchicine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Etoposide | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Mitomycin | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: mitochondrial complex II deficiency, nuclear type 1, mitochondrial complex 2 deficiency, nuclear type 2, Leigh syndrome, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mitochondrial complex 2 deficiency, nuclear type 2, mitochondrial complex II deficiency, nuclear type 1