Free for academic non-profit institutions. Other users need a Commercial license

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
  • Succinate--CoA Ligase (ADP-Forming) 2 3
  • EC 6.2.1.5 4 61
  • 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
  • Renal Carcinoma Antigen NY-REN-39 3
  • Succinate-CoA Ligase Beta Subunit 3
  • EC 6.2.1 61
  • A-BETA 3
  • MTDPS5 3

External Ids for SUCLA2 Gene

Previous GeneCards Identifiers for SUCLA2 Gene

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

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 Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria. Among its related pathways are Citrate cycle (TCA cycle) and Valproic Acid Pathway, Pharmacodynamics. 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

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

Genomics for SUCLA2 Gene

Regulatory Elements for SUCLA2 Gene

Enhancers for SUCLA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G047999 1 ENCODE 20.9 -0.2 -196 3.2 PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SUCLA2 MED4 MED4-AS1 SUCLA2-AS1 PIR59035 GC13P048033 GC13P048032
GH13G048008 0.8 ENCODE 20.6 -8.1 -8060 1.8 ELF3 ATF1 ZBTB40 RFX5 RARA GATA4 FOS RCOR1 SP5 CEBPB SUCLA2 SUCLA2-AS1 PIR59035 GC13P048033 GC13P048032
GH13G048143 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -143.3 -143291 1.5 ATF1 ATF3 MAX MYC RAD21 ATF2 NR2F2 ITM2B MED4-AS1 SUCLA2 RCBTB2 RB1 MED4 POLR2KP2 LOC105370198
GH13G047903 1.4 FANTOM5 Ensembl ENCODE 9.3 +97.1 97119 0.9 ATF1 CBX3 ETV1 ZBTB40 ZNF766 POLR2A NR2F6 FOS RELB CREM SUCLA2 RB1 LINC00444 ENSG00000228573
GH13G048123 1.2 Ensembl ENCODE 9.8 -124.5 -124540 4.1 ELF3 TBP NFIB ZFP64 INSM2 ZNF2 RAD21 ZSCAN5C MIXL1 ZNF654 MED4 ITM2B MED4-AS1 SUCLA2 POLR2KP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SUCLA2 on UCSC Golden Path with GeneCards custom track

Promoters for SUCLA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000062579 354 2001 PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1

Genomic Location for SUCLA2 Gene

Chromosome:
13
Start:
47,936,491 bp from pter
End:
48,001,354 bp from pter
Size:
64,864 bases
Orientation:
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:
    Q9P2R7-SUCB1_HUMAN
    Recommended name:
    Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
    Protein Accession:
    Q9P2R7
    Secondary Accessions:
    • B2RDE7
    • O95194
    • Q5T9Q4
    • Q5T9Q6
    • Q9NV21
    • Q9NVP7

    Protein attributes for SUCLA2 Gene

    Size:
    463 amino acids
    Molecular mass:
    50317 Da
    Cofactor:
    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).

    Alternative splice isoforms for SUCLA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUCLA2 Gene

Selected DME Specific Peptides for SUCLA2 Gene

Q9P2R7:
  • ANFLDVGG
  • LDGNIGC
  • VLCMDAKINFDSNSAYRQKKIFDLQDW
  • DAKINFD
  • AGGRGKG
  • VNIFGGI
  • NGAGLAMATMD
  • VNGAGLAM
  • SGLKGGVKIVFSPEEAKAVSSQMIG
  • QVTEAFKLITSDKKV
  • SGLKGGV
  • IPVVVRL
  • NIFGGIMRCD

Post-translational modifications for SUCLA2 Gene

  • Ubiquitination at Lys417
  • Modification sites at PhosphoSitePlus

Domains & Families for SUCLA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2R7

UniProtKB/Swiss-Prot:

SUCB1_HUMAN :
  • Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.
Family:
  • 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

No data available for Gene Families for SUCLA2 Gene

Function for SUCLA2 Gene

Molecular function for SUCLA2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + succinate + CoA = ADP + phosphate + succinyl-CoA.
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).

Enzyme Numbers (IUBMB) 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

CRISPR Products

miRNA for SUCLA2 Gene

Inhibitory RNA Products

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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

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 IDA 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 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
Adenosine triphosphate Approved Nutra 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
132-06-9
Itaconic acid
  • Methylenebutanedioate
  • 2-Hydroxy-3-Naphthoyl-2-Naphthylamine
  • 2-Methylenesuccinate
  • 2-Methylenesuccinic acid
  • 2-Propene-1,2-dicarboxylate
97-65-4
Itaconyl-CoA
  • Itaconoyl CoA
  • Itaconoyl coenzyme A
  • S-(1-Hydrogen methylenesuccinate) CoA
  • S-(1-Hydrogen methylenesuccinate) Coenzyme A
  • S-3-Methylenesuccinate CoA
6008-93-1
genes like me logo Genes that share compounds with SUCLA2: view

Transcripts for SUCLA2 Gene

Unigene Clusters for SUCLA2 Gene

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

CRISPR Products

Inhibitory RNA Products

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: - - - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for SUCLA2 Gene

GeneLoc Exon Structure for
SUCLA2
ECgene alternative splicing isoforms for
SUCLA2

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, PaxDb, 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:

SUCLA2

SOURCE GeneReport for Unigene cluster for SUCLA2 Gene:

Hs.743361

mRNA Expression by UniProt/SwissProt for SUCLA2 Gene:

Q9P2R7-SUCB1_HUMAN
Tissue specificity: Widely expressed. Not expressed in liver and lung.

Evidence on tissue expression from TISSUES for SUCLA2 Gene

  • Nervous system(4.7)
  • 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
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • skull
  • tongue
Thorax:
  • lung
Abdomen:
  • kidney
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SUCLA2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia SUCLA2 34 35
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia SUCLA2 34 35
  • 93.78 (n)
cow
(Bos Taurus)
Mammalia SUCLA2 34 35
  • 91.94 (n)
mouse
(Mus musculus)
Mammalia Sucla2 34 16 35
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Sucla2 34
  • 87.26 (n)
oppossum
(Monodelphis domestica)
Mammalia SUCLA2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUCLA2 35
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUCLA2 34 35
  • 81.63 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sucla2 34
  • 76.25 (n)
MGC75984 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9091 34
zebrafish
(Danio rerio)
Actinopterygii sucla2 34 35
  • 71.44 (n)
wufj90d07 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004744 34
  • 61.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11963 36
  • 59 (a)
skap 34 35
  • 58.33 (n)
Sucb 36
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea F47B10.1 36
  • 63 (a)
suca-1 34 35
  • 60.69 (n)
C50F7.4 36
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSC2 34 35 37
  • 54.85 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05478g 34
  • 52.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL211W 34
  • 49.62 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20420 34
  • 57.35 (n)
rice
(Oryza sativa)
Liliopsida Os02g0621700 34
  • 57.38 (n)
Os.9758 34
corn
(Zea mays)
Liliopsida Zm.6580 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7264 35
  • 70 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1620.08 34
  • 56.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08471 34
  • 54.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4817 34
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

ENSEMBL:
Gene Tree for SUCLA2 (if available)
TreeFam:
Gene Tree for SUCLA2 (if available)

Paralogs for SUCLA2 Gene

Paralogs for SUCLA2 Gene

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

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 Sequence Context AA Info Type
rs121908537 Pathogenic, Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] 47,988,901(-) AAGGA(A/G)GAGTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908538 Pathogenic, Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] 47,954,510(-) CCTAT(C/T)GCCAA nc-transcript-variant, reference, missense
rs186364861 drug-response 48,037,798(+) TCGGA(A/G)TCGTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs397515462 Pathogenic, Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] 47,968,646(-) AATAC(A/G)ATGCA nc-transcript-variant, reference, missense
rs869320766 drug-response 48,037,801(+) AGTCG(-/GAGTCG)TGGTG nc-transcript-variant, cds-indel, utr-variant-5-prime

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)

Relevant External Links for SUCLA2 Gene

Human Gene Mutation Database (HGMD)
SUCLA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUCLA2

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

Disorders for SUCLA2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SUCLA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 5
  • mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria
sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria
  • sucla2 deficiency
mitochondrial dna depletion syndrome, encephalomyopathic form
succinate-coa ligase deficiency
  • mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria
methylmalonic aciduria, vitamin b12-responsive
  • methylmalonic aciduria, cbla type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SUCB1_HUMAN
  • 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.

Relevant External Links for SUCLA2

Genetic Association Database (GAD)
SUCLA2
Human Genome Epidemiology (HuGE) Navigator
SUCLA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SUCLA2
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. … Shigeru S. (J. Clin. Invest. 2000) 3 4 22 64
  2. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. (PMID: 9765291) Johnson J.D. … Lambeth D.O. (J. Biol. Chem. 1998) 2 3 4 64
  3. The novel mutation p.Asp251Asn in the I^-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. (PMID: 23759946) Jaberi E. … Elahi E. (J. Hum. Genet. 2013) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (PMID: 17301081) Carrozzo R. … Wevers R.A. (Brain 2007) 4 22 64

Products for SUCLA2 Gene

Sources for SUCLA2 Gene

Content
Loading form....