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GeneE
0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MCCC1
methylcrotonyl-CoA carboxylase subunit 1
Chromosome 3 · 3q27.1
NCBI Gene: 56922Ensembl: ENSG00000078070.14HGNC: HGNC:6936UniProt: A0A0S2Z693
140PubMed Papers
21Diseases
0Drugs
204Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
methylcrotonoyl-CoA carboxylase activitymethylcrotonoyl-CoA carboxylase complexmitochondrionprotein bindingIsolated 3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiencyParkinson diseasegenetic disorder
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

methylcrotonyl-CoA carboxylase subunit 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Isolated 3-methylcrotonyl-CoA carboxylase deficiencyOpen Targets
0.86Strong
3-methylcrotonyl-CoA carboxylase deficiencyOpen Targets
0.73Strong
Parkinson diseaseOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
Lewy body dementiaOpen Targets
0.25Weak
age-related macular degenerationOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
liver diseaseOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 4Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
age related macular degeneration 7Open Targets
0.06Suggestive
3-methylcrotonoyl-CoA carboxylase 1 deficiencyUniProt
Pathogenic Variants204
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|MCCC1-related disorder
★★☆☆2026→ Residue 560
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency|MCCC1-related disorder
★★☆☆2026→ Residue 281
NM_020166.5(MCCC1):c.640-2A>GPathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided
★★☆☆2026
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency|Inborn genetic diseases
★★☆☆2026→ Residue 325
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency|Inborn genetic diseases
★★☆☆2026→ Residue 385
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided
★★☆☆2026→ Residue 697
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 372
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2026→ Residue 644
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency|not provided
★★☆☆2026→ Residue 444
NM_020166.5(MCCC1):c.1870-2A>GLikely pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2026
NM_020166.5(MCCC1):c.89+2_89+4delLikely pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2026
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided
★★☆☆2026→ Residue 509
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 421
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided
★★☆☆2025→ Residue 58
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided
★★☆☆2025→ Residue 422
NM_020166.5(MCCC1):c.639+5G>TPathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2025
NM_020166.5(MCCC1):c.89+1G>CLikely pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency|MCCC1-related disorder
★★☆☆2025
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)Likely pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2025→ Residue 289
NM_020166.5(MCCC1):c.137-2A>GPathogenic
not provided|3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2025
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 1 deficiency
★★☆☆2025→ Residue 104
View on ClinVar ↗
Related Genes
HLCSProtein interaction98%ECHS1Protein interaction95%EHHADHProtein interaction95%HADHAProtein interaction95%PCCBProtein interaction95%MCCProtein interaction92%
Tissue Expression6 tissues
Heart
100%
Liver
93%
Ovary
53%
Bone Marrow
47%
Lung
45%
Brain
45%
Gene Interaction Network
Click a node to explore
MCCC1HLCSECHS1EHHADHHADHAPCCBMCC
PROTEIN STRUCTURE
Preparing viewer…
PDB8XL6 · 2.29 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.52–0.82]
RankingsWhere MCCC1 stands among ~20K protein-coding genes
  • #3,282of 20,598
    Most Researched140 · top quartile
  • #328of 5,498
    Most Pathogenic Variants204 · top 10%
  • #6,934of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedMCCC1
Sources retrieved0 papers
Response time—