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Gene

MCCC1

methylcrotonyl-CoA carboxylase subunit 1

Summary

Cytogenetic location
3q27.1
Coordinates
Chromosome 3: 183,015,218–183,099,496 (GRCh38)
Exons
19 exons across 84.3 kb
Protein
725 amino acids
Inheritance
Autosomal recessive
Also known as
MCCA, MCCCα
MANE Select transcript
ENST00000265594.9NM_020166.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Classic Organic Acidurias

    • 3-Methylcrotonyl-CoA Carboxylase DeficiencyAutosomal recessive

      Caused by variants in MCCC1 or MCCC2; many people have no symptoms, but some develop metabolic crises, particularly during illness.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing supports awareness of illness-related risk and specialist advice where needed.

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MCCC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where MCCC1 sits. MCCC1 and 6 genes near it on chromosome 3, from 182,557,357 to 183,557,356.Chromosome 33q27.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29182.6 Mb182.8 Mb183 Mb183.2 Mb183.4 MbATP11B: 182,793,466–182,923,011, forward strandATP11BDCUN1D1: 182,938,074–182,985,953, reverse strandDCUN1D1MCCC1: 183,015,218–183,099,496, reverse strandMCCC1LAMP3: 183,122,013–183,163,839, reverse strandLAMP3MCF2L2: 183,176,121–183,428,948, reverse strandMCF2L2B3GNT5: 183,249,214–183,298,504, forward strandB3GNT5KLHL6: 183,487,551–183,555,706, reverse strandKLHL6Diagram of MCCC1: 19 exons on the reverse strand of chromosome 3Exon 19: 3 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 19: 183,015,218–183,015,566, 349 basesExon 18: 183,017,266–183,017,337, 72 basesExon 17: 183,020,130–183,020,237, 108 basesExon 16: 183,022,417–183,022,554, 138 basesExon 15: 183,025,755–183,025,804, 50 basesExon 14: 183,033,991–183,034,077, 87 basesExon 13: 183,037,218–183,037,434, 217 basesExon 12: 183,039,026–183,039,135, 110 basesExon 11: 183,041,567–183,041,750, 184 basesExon 10: 183,045,413–183,045,540, 128 basesExon 9: 183,052,159–183,052,240, 82 basesExon 8: 183,057,311–183,057,422, 112 basesExon 7: 183,070,999–183,071,120, 122 basesExon 6: 183,071,210–183,071,357, 148 basesExon 5: 183,072,366–183,072,487, 122 basesExon 4: 183,086,693–183,086,788, 96 basesExon 3: 183,092,409–183,092,545, 137 basesExon 2: 183,094,559–183,094,605, 47 basesExon 1: 183,099,352–183,099,496, 145 bases191510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.5 kb of the gene's 84.3 kb; 2,178 of those bases code for the protein.

How a genome test reads MCCC1

189

positions in MCCC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 84.3 kb of MCCC1, introns included, not only the 2.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MCCC1 gene: methylcrotonyl-CoA carboxylase subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mccc1

Vancouver

Dante Labs. MCCC1 gene: methylcrotonyl-CoA carboxylase subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mccc1

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