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Aliases for SUCLA2 Gene

Aliases for SUCLA2 Gene

  • Succinate-CoA Ligase ADP-Forming Beta Subunit 2 3 5
  • ATP-Specific Succinyl-CoA Synthetase Subunit Beta 3 4
  • Succinyl-CoA Synthetase Beta-A Chain 3 4
  • SCS-BetaA 3 4
  • A-SCS 3 4
  • Succinate--CoA Ligase [ADP-Forming] Subunit Beta, Mitochondrial 3
  • Succinyl-CoA Ligase [ADP-Forming] Subunit Beta, Mitochondrial 3
  • Mitochondrial Succinyl-CoA Ligase [ADP-Forming] Subunit Beta 3
  • ATP-Specific Succinyl-CoA Synthetase, Beta Subunit 3
  • Succinate-CoA Ligase, ADP-Forming, Beta Subunit 2
  • Succinate--CoA Ligase (ADP-Forming) 2
  • Renal Carcinoma Antigen NY-REN-39 3
  • Succinate-CoA Ligase Beta Subunit 3
  • EC 4
  • A-BETA 3
  • MTDPS5 3

External Ids for SUCLA2 Gene

Previous GeneCards Identifiers for SUCLA2 Gene

  • GC13M046516
  • GC13M042504
  • GC13M047215
  • GC13M046314
  • GC13M047414
  • GC13M048510
  • GC13M029309
  • GC13M047936

Summaries for SUCLA2 Gene

Entrez Gene Summary for SUCLA2 Gene

  • Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]

GeneCards Summary for SUCLA2 Gene

SUCLA2 (Succinate-CoA Ligase ADP-Forming Beta Subunit) is a Protein Coding gene. Diseases associated with SUCLA2 include Mitochondrial Dna Depletion Syndrome 5 and Thiopurines, Poor Metabolism Of, 2. Among its related pathways are Metabolism and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include succinate-CoA ligase (ADP-forming) activity. An important paralog of this gene is SUCLG2.

UniProtKB/Swiss-Prot for SUCLA2 Gene

  • ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).

Gene Wiki entry for SUCLA2 Gene

Additional gene information for SUCLA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUCLA2 Gene

Genomics for SUCLA2 Gene

GeneHancer (GH) Regulatory Elements for SUCLA2 Gene

Promoters and enhancers for SUCLA2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J048036 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.7 -0.5 -512 4.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 SUCLA2 NUDT15 PPP1R26P1 MED4 SUCLA2-AS1 ENSG00000276968
GH13J048093 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.2 -56.8 -56751 2.1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 MED4 SUCLA2 PPP1R26P1 MED4-AS1 ITM2B
GH13J047999 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 670.4 +36.4 36418 3.2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1 SLC30A9 SUCLA2 SUCLA2-AS1 MED4 MED4-AS1 PIR59035 GC13P048033 GC13P048032
GH13J048008 Enhancer 0.7 ENCODE 20.4 +28.6 28554 1.8 SOX13 JUN CEBPG RFX5 CTBP1 RCOR1 FOS SMARCE1 HLF CEBPB SUCLA2 SUCLA2-AS1 PIR59035 GC13P048033 GC13P048032
GH13J048143 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -106.7 -106677 1.5 ATF1 RXRA MAX RAD21 ATF2 NR2F2 SP1 POLR2A CREB1 ATF7 ITM2B MED4-AS1 SUCLA2 RCBTB2 RB1 MED4 POLR2KP2 LOC105370198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUCLA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SUCLA2 gene promoter:
  • AREB6
  • C/EBPbeta
  • HNF-4alpha1
  • Sp1
  • C/EBPalpha

Genomic Locations for SUCLA2 Gene

Genomic Locations for SUCLA2 Gene
292,233 bases
Minus strand
101,504 bases
Minus strand

Genomic View for SUCLA2 Gene

Genes around SUCLA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUCLA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUCLA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUCLA2 Gene

Proteins for SUCLA2 Gene

  • Protein details for SUCLA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RDE7
    • O95194
    • Q5T9Q4
    • Q5T9Q6
    • Q9NV21
    • Q9NVP7

    Protein attributes for SUCLA2 Gene

    463 amino acids
    Molecular mass:
    50317 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The beta subunit determines specificity for ATP (By similarity). Interacts with ALAS2 (PubMed:14643893).

    Three dimensional structures from OCA and Proteopedia for SUCLA2 Gene

    Alternative splice isoforms for SUCLA2 Gene


neXtProt entry for SUCLA2 Gene

Post-translational modifications for SUCLA2 Gene

  • Ubiquitination at isoforms=2417
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUCLA2 Gene

Domains & Families for SUCLA2 Gene

Gene Families for SUCLA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.
  • Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.
genes like me logo Genes that share domains with SUCLA2: view

Function for SUCLA2 Gene

Molecular function for SUCLA2 Gene

UniProtKB/Swiss-Prot Function:
ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + succinate + CoA = ADP + phosphate + succinyl-CoA.

Enzyme Numbers (IUBMB) for SUCLA2 Gene

Phenotypes From GWAS Catalog for SUCLA2 Gene

Gene Ontology (GO) - Molecular Function for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004775 succinate-CoA ligase (ADP-forming) activity TAS 10727444
GO:0005515 protein binding IPI 10727444
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SUCLA2: view
genes like me logo Genes that share phenotypes with SUCLA2: view

Human Phenotype Ontology for SUCLA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SUCLA2

miRNA for SUCLA2 Gene

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SUCLA2 Gene

Localization for SUCLA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUCLA2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUCLA2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 10727444
GO:0005759 mitochondrial matrix TAS --
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SUCLA2: view

Pathways & Interactions for SUCLA2 Gene

genes like me logo Genes that share pathways with SUCLA2: view

UniProtKB/Swiss-Prot Q9P2R7-SUCB1_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.

Gene Ontology (GO) - Biological Process for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IEA,TAS --
GO:0006104 succinyl-CoA metabolic process TAS 9765291
GO:0006105 succinate metabolic process IEA --
GO:0006781 succinyl-CoA pathway NAS 10727444
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with SUCLA2: view

No data available for SIGNOR curated interactions for SUCLA2 Gene

Drugs & Compounds for SUCLA2 Gene

(9) Drugs for SUCLA2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Phosphoric acid Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

(6) Additional Compounds for SUCLA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
Itaconic acid
  • 2-Methylenesuccinic acid
  • 2-Propene-1,2-dicarboxylic acid
  • Methylenebutanedioic acid
  • Methylenesuccinic acid
  • Propylenedicarboxylic acid
  • Itaconoyl CoA
  • Itaconoyl coenzyme A
  • S-(1-Hydrogen methylenesuccinate) CoA
  • S-(1-Hydrogen methylenesuccinate) coenzyme A
  • S-3-Methylenesuccinate CoA
genes like me logo Genes that share compounds with SUCLA2: view

Transcripts for SUCLA2 Gene

mRNA/cDNA for SUCLA2 Gene

(1) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(261) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SUCLA2 Gene

Succinate-CoA ligase, ADP-forming, beta subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SUCLA2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP3: -
SP4: - -

Relevant External Links for SUCLA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SUCLA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUCLA2 Gene

mRNA differential expression in normal tissues according to GTEx for SUCLA2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for SUCLA2 Gene

This gene is overexpressed in Heart (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUCLA2 Gene

Protein tissue co-expression partners for SUCLA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUCLA2 Gene:


SOURCE GeneReport for Unigene cluster for SUCLA2 Gene:


mRNA Expression by UniProt/SwissProt for SUCLA2 Gene:

Tissue specificity: Widely expressed. Not expressed in liver and lung.

Evidence on tissue expression from TISSUES for SUCLA2 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(2.7)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUCLA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • skull
  • tongue
  • lung
  • kidney
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SUCLA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SUCLA2 Gene

Orthologs for SUCLA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SUCLA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SUCLA2 34 33
  • 99.21 (n)
(Canis familiaris)
Mammalia SUCLA2 34 33
  • 93.78 (n)
(Bos Taurus)
Mammalia SUCLA2 34 33
  • 91.94 (n)
(Mus musculus)
Mammalia Sucla2 16 34 33
  • 88.05 (n)
(Rattus norvegicus)
Mammalia Sucla2 33
  • 87.26 (n)
(Monodelphis domestica)
Mammalia SUCLA2 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia SUCLA2 34
  • 21 (a)
(Gallus gallus)
Aves SUCLA2 34 33
  • 81.63 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
-- 34
  • 71 (a)
-- 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sucla2 33
  • 76.25 (n)
MGC75984 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9091 33
(Danio rerio)
Actinopterygii sucla2 34 33
  • 71.44 (n)
wufj90d07 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004744 33
  • 61.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11963 35
  • 59 (a)
skap 34 33
  • 58.33 (n)
Sucb 35
  • 49 (a)
(Caenorhabditis elegans)
Secernentea F47B10.1 35
  • 63 (a)
suca-1 34 33
  • 60.69 (n)
C50F7.4 35
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSC2 36 34 33
  • 54.85 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05478g 33
  • 52.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL211W 33
  • 49.62 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20420 33
  • 57.35 (n)
(Oryza sativa)
Liliopsida Os02g0621700 33
  • 57.38 (n)
Os.9758 33
(Zea mays)
Liliopsida Zm.6580 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7264 34
  • 70 (a)
Cin.4817 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1620.08 33
  • 56.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08471 33
  • 54.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4817 33
Species where no ortholog for SUCLA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SUCLA2 Gene

Gene Tree for SUCLA2 (if available)
Gene Tree for SUCLA2 (if available)
Evolutionary constrained regions (ECRs) for SUCLA2: view image

Paralogs for SUCLA2 Gene

Paralogs for SUCLA2 Gene

(4) SIMAP similar genes for SUCLA2 Gene using alignment to 6 proteins:

  • F5H5G8_HUMAN
  • Q5T9Q5_HUMAN
  • Q5T9Q8_HUMAN
genes like me logo Genes that share paralogs with SUCLA2: view

Variants for SUCLA2 Gene

Sequence variations from dbSNP and Humsavar for SUCLA2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs10397 likely-benign, Mitochondrial DNA depletion syndrome 47,942,710(-) G/C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1057041508 uncertain-significance, Mitochondrial DNA depletion syndrome 47,942,940(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113994161 pathogenic, Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 47,988,540(-) C/T splice_donor_variant
rs117412559 benign, likely-benign, not specified, Mitochondrial DNA depletion syndrome 47,954,148(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121908537 pathogenic, Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] 47,988,901(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SUCLA2 Gene

Variant ID Type Subtype PubMed ID
nsv1029 CNV insertion 18451855
nsv832601 CNV gain 17160897

Variation tolerance for SUCLA2 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUCLA2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUCLA2 Gene

Disorders for SUCLA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SUCLA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 5
  • mtdps5
thiopurines, poor metabolism of, 2
  • thpm2
succinate-coa ligase deficiency
  • mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria
3-methylglutaconic aciduria, type iv
  • mgca4
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards


  • Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]: A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. {ECO:0000269 PubMed:15877282, ECO:0000269 PubMed:17287286, ECO:0000269 PubMed:17301081, ECO:0000269 PubMed:23759946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SUCLA2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SUCLA2: view

No data available for Genatlas for SUCLA2 Gene

Publications for SUCLA2 Gene

  1. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. (PMID: 10727444) Furuyama K … Sassa S (The Journal of clinical investigation 2000) 3 4 22 58
  2. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. (PMID: 9765291) Johnson JD … Lambeth DO (The Journal of biological chemistry 1998) 2 3 4 58
  3. The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. (PMID: 23759946) Jaberi E … Elahi E (Journal of human genetics 2013) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (PMID: 17287286) Ostergaard E … Schwartz M (Brain : a journal of neurology 2007) 4 22 58

Products for SUCLA2 Gene

Sources for SUCLA2 Gene

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