MCCC2

MCCC2
Identifiers
AliasesMCCC2, MCCB, methylcrotonoyl-CoA carboxylase 2, MCCCbeta, methylcrotonyl-CoA carboxylase subunit 2
External IDsOMIM: 609014; MGI: 1925288; GeneCards: MCCC2
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
6.4.1.4↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

64087

78038

Ensembl

ENSG00000131844
ENSG00000281742
ENSG00000275300

ENSMUSG00000021646

UniProt

Q9HCC0

Q3ULD5

RefSeq (mRNA)

NM_022132
NM_001363147

NM_030026

RefSeq (protein)

NP_071415
NP_001350076

NP_084302

Location (UCSC)Chr 5: 71.58 – 71.66 MbChr 13: 100.09 – 100.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Methylcrotonoyl-CoA carboxylase subunit beta is an enzyme that in humans is encoded by the MCCC2 gene.[5]

Function

MCCC2 encodes the β-subunit of the mitochondrial enzyme methylcrotonoyl-CoA carboxylase (MCC), which catalyzes the biotin-dependent carboxylation of 3-methylcrotonoyl-CoA to 3-methylglutaconyl-CoA in the catabolic pathway of the branched-chain amino acid leucine. The β-subunit encoded by MCCC2 contains the carboxyltransferase domain that forms active sites at the interface of β-subunit dimers within the MCC α6β6 holoenzyme.[6]

Clinical significance

Pathogenic variants in MCCC2 cause 3-methylcrotonyl-CoA carboxylase deficiency, an autosomal recessive inborn error of leucine metabolism that can manifest with metabolic acidosis, developmental delay, or remain clinically asymptomatic.[7][8][9][10] Beyond its metabolic role, MCCC2 has been implicated in tumorigenesis through modulation of mitochondrial dynamics, apoptosis, and energy metabolism, promoting cell proliferation and migration in prostate and colorectal cancers[11] via pathways such as GLUD1–p38 MAPK signaling.[12]

References

  1. ^ a b c ENSG00000281742, ENSG00000275300 GRCh38: Ensembl release 89: ENSG00000131844, ENSG00000281742, ENSG00000275300 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021646 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "MCCC2 gene: MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. Retrieved October 20, 2025.
  6. ^ Plaza-Pegueroles A, Aphasizheva I, Aphasizhev R, Fernández-Tornero C, Ruiz FM (July 2024). "The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function". Structure. 32 (7): 930–940.e3. doi:10.1016/j.str.2024.03.010. PMC 11246232. PMID 38593794.
  7. ^ Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, et al. (May 2012). "3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals". Orphanet Journal of Rare Diseases. 7 31. doi:10.1186/1750-1172-7-31. PMC 3495011. PMID 22642865.
  8. ^ "3-methylcrotonyl-CoA carboxylase deficiency". Orphanet. INSERM US14, Université de Lyon, France. Retrieved October 20, 2025.
  9. ^ "3-methylcrotonyl-CoA carboxylase deficiency – MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. October 1, 2008. Retrieved October 20, 2025.
  10. ^ Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, et al. (February 2001). "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency". The Journal of Clinical Investigation. 107 (4): 495–504. doi:10.1172/JCI11948. PMC 199271. PMID 11181649.
  11. ^ Liu W, Chen S, Xie W, Wang Q, Luo Q, Huang M, et al. (October 2023). "MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer". Cellular & Molecular Biology Letters. 28 (1) 80. doi:10.1186/s11658-023-00487-0. PMC 10571261. PMID 37828426.
  12. ^ He J, Mao Y, Huang W, Li M, Zhang H, Qing Y, et al. (2020). "Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway". OncoTargets and Therapy. 13: 7317–7327. doi:10.2147/OTT.S249906. PMC 7395692. PMID 32801758.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.