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1 to 16 of 16  Show
  1. 1
    "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
    Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C.
    Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 85 other entries.

  2. 2
    "Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion."
    Elpeleg O., Miller C., Hershkovitz E., Bitner-Glindzicz M., Bondi-Rubinstein G., Rahman S., Pagnamenta A., Eshhar S., Saada A.
    Am. J. Hum. Genet. 76:1081-1086(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Deficiency of SUCLA2 is associated with encephalomyopathy and mitochondrial DNA depletion.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  3. 3
    "A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria."
    Ostergaard E., Schwartz M., Batbayli M., Christensen E., Hjalmarson O., Kollberg G., Holme E.
    Eur. J. Pediatr. 169:201-205(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Mitochondrial DNA depletion encephalomyopathic form with methylmalonic aciduria is associated with mutations in SUCLA2 the gene encoding a beta subunit of succinate-CoA ligase.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  4. 4
    Category: Function.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:8803.

    This publication is mapped to 3063 other entries.

  5. 5
    "X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2)."
    Bishop D.F., Tchaikovskii V., Hoffbrand A.V., Fraser M.E., Margolis S.
    J. Biol. Chem. 287:28943-28955(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2).
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  6. 6
    "Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients."
    Navarro-Sastre A., Tort F., Garcia-Villoria J., Pons M.R., Nascimento A., Colomer J., Campistol J., Yoldi M.E., Lopez-Gallardo E., Montoya J., Unceta M., Martinez M.J., Briones P., Ribes A.
    Mol. Genet. Metab. 107:409-415(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1).
    Source: GeneRIF:8803.

    This publication is mapped to 15 other entries.

  7. 7
    Category: Sequences.
    Annotation: A novel homozygous mutation in SUCLA2 gene has been associated with severe mitochondrial encephalomyopathies in two Italian siblings.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  8. 8
    "The novel mutation p.Asp251Asn in the beta-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine."
    Jaberi E., Chitsazian F., Ali Shahidi G., Rohani M., Sina F., Safari I., Malakouti Nejad M., Houshmand M., Klotzle B., Elahi E.
    J. Hum. Genet. 58:526-530(2013) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Identification of a novel mutation in SUCLA2 in two cousins affected with encephalomyopathy is reported.
    Source: GeneRIF:8803.

    This publication is mapped to 9 other entries.

  9. 9
    Category: Expression, Sequences.
    Annotation: This study demonstrated that SUCLA2 is expressed exclusively in neurons in the human cerebral cortex.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  10. 10
    "Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion."
    Matilainen S., Isohanni P., Euro L., Lonnqvist T., Pihko H., Kivela T., Knuutila S., Suomalainen A.
    Eur. J. Hum. Genet. 23:325-330(2015) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy even in the absence of methylmalonic aciduria or mitochondrial DNA depletion.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  11. 11
    "Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain."
    Dobolyi A., Bago A.G., Gal A., Molnar M.J., Palkovits M., Adam-Vizi V., Chinopoulos C.
    J. Bioenerg. Biomembr. 47:33-41(2015) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location.
    Annotation: The absence of SUCLA2 and SUCLG2 in human glia is in compliance with the presence of alternative pathways occurring in these cells namely the GABA shunt and ketone body metabolism.
    Source: GeneRIF:8803.

    This publication is mapped to 15 other entries.

  12. 12
    Category: Sequences.
    Annotation: Long survival to age 20 years or older was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients.
    Source: GeneRIF:8803.

    This publication is mapped to 15 other entries.

  13. 13
    "Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease."
    Park S.K., Hong M., Ye B.D., Kim K.J., Park S.H., Yang D.H., Hwang S.W., Kwak M.S., Lee H.S., Song K., Yang S.K.
    Scand. J. Gastroenterol. 51:684-691(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: XDH and SUCLA2 genes associated with thiopurine-induced leukopenia can act in a complex interactive manner in patients with Crohn's disease.
    Source: GeneRIF:8803.

    This publication is mapped to 13 other entries.

  14. 14
    "Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant."
    Donti T.R., Masand R., Scott D.A., Craigen W.J., Graham B.H.
    Mol. Genet. Metab. 119:68-74(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: The patient's cells lack the SUCLG1 protein with significantly reduced levels of SUCLA2 and SUCLG2 protein.
    Source: GeneRIF:8803.

    This publication is mapped to 15 other entries.

  15. 15
    "Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis through injury of the mitochondrial function of cells."
    Huang S., Wang J., Wang L.
    Folia Histochem. Cytobiol. 54:134-142(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location, Interaction.
    Annotation: Sucla2 is related to the developmental stages of mouse spermatogenesis. Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis via decreased mitochondrial function of the cells.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

  16. 16
    Category: Sequences.
    Annotation: SUCLA2 mutation is associated with Down syndrome and mitochondrial depletion syndrome.
    Source: GeneRIF:8803.

    This publication is mapped to 10 other entries.

1 to 16 of 16  Show
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