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1 to 13 of 13  Show
  1. 1
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Tissue: Amygdala.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 12927 other entries.

  2. 2
    "3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening."
    Dantas M.F., Suormala T., Randolph A., Coelho D., Fowler B., Valle D., Baumgartner M.R.
    Hum. Mutat. 26:164-174(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC deficiency.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  3. 3
    Category: Function.
    Annotation: The amino-termini containing 20 amino acids (MCCbeta) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis.
    Source: GeneRIF:64087.

    This publication is cited by 3 and mapped to 10 other entries.

  4. 4
    "Crystal structure of the biotin carboxylase domain of human acetyl-CoA carboxylase 2."
    Cho Y.S., Lee J.I., Shin D., Kim H.T., Cheon Y.H., Seo C.I., Kim Y.E., Hyun Y.L., Lee Y.S., Sugiyama K., Park S.Y., Ro S., Cho J.M., Lee T.G., Heo Y.S.
    Proteins 70:268-272(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: The Kd value of soraphen A for the BC domains of human ACC1 and ACC2 is 1 nM. This high binding affinity is mainly due to the extensive interactions between soraphen A and the human biotin carboxylase domain.
    Source: GeneRIF:64087.

    This publication is mapped to 4 other entries.

  5. 5
    Category: Sequences.
    Annotation: Molecular analyses revealed novel mutations in one of the causative genes MCCA or MCCB in all five of the MCC deficiency patients.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  6. 6
    "Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals."
    Oguri M., Kato K., Yokoi K., Yoshida T., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y., Yamada Y.
    Am. J. Hypertens. 23:70-77(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech, Sequences.
    Annotation: Not Associated with CARDIOVASCULAR: hypertension. [GAD:590205]. Observational study of gene-disease association. (HuGE Navigator). [GeneRIF:64087].
    Source: GeneRIF:64087, GAD:590205.

    This publication is mapped to 596 other entries.

  7. 7
    "Association of genetic variants with hemorrhagic stroke in Japanese individuals."
    Yoshida T., Kato K., Yokoi K., Oguri M., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y., Yamada Y.
    Int. J. Mol. Med. 25:649-656(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:64087.

    This publication is mapped to 507 other entries.

  8. 8
    Category: Function.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:64087.

    This publication is mapped to 3063 other entries.

  9. 9
    "Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria."
    Nguyen K.V., Naviaux R.K., Patra S., Barshop B.A., Nyhan W.L.
    Mol. Genet. Metab. 102:218-221(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  10. 10
    "Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency."
    Cho S.Y., Park H.D., Lee Y.W., Ki C.S., Lee S.Y., Sohn Y.B., Park S.W., Kim S.H., Ji S., Kim S.J., Choi E.W., Kim C.H., Ko A.R., Paik K.H., Lee D.H., Jin D.K.
    Clin. Genet. 81:96-98(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  11. 11
    "A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency."
    Morscher R.J., Grunert S.C., Burer C., Burda P., Suormala T., Fowler B., Baumgartner M.R.
    Mol. Genet. Metab. 105:602-606(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  12. 12
    "Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency."
    Yang L., Yang J., Zhang T., Weng C., Hong F., Tong F., Yang R., Yin X., Yu P., Huang X., Qi M.
    Clin. Genet. 88:484-488(2015) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Novel mutation in MCCC2 gene was identified in Chinese population.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

  13. 13
    "3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening."
    Fonseca H., Azevedo L., Serrano C., Sousa C., Marcao A., Vilarinho L.
    Gene 594:203-210(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance.
    Source: GeneRIF:64087.

    This publication is cited by 1 and mapped to 10 other entries.

1 to 13 of 13  Show
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