MCCC1 — methylcrotonyl-CoA carboxylase subunit 1

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

140PubMed Papers

#3,293 · top 17% of 19K genes

21Diseases

top 12%

0Drugs

204Pathogenic Variants

top 6%

OMIM Disease GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

methylcrotonoyl-CoA carboxylase activitymethylcrotonoyl-CoA carboxylase complexmitochondrionprotein bindingIsolated 3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiencyParkinson diseasegenetic disorder

AI Summary

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methylcrotonyl-CoA carboxylase subunit 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

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.980C>G (p.Ser327Ter)Pathogenic

not provided|3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency

★★☆☆2026→ Residue 327

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.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.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.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.2088dup (p.Val697fs)Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided

★★☆☆2026→ Residue 697

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.1526del (p.Cys509fs)Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided

★★☆☆2026→ Residue 509

NM_020166.5(MCCC1):c.89+2_89+4delLikely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

★★☆☆2026

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.310C>T (p.Gln104Ter)Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

★★☆☆2025→ Residue 104

Tissue Expression6 tissues

Heart

100%

Liver

93%

Ovary

53%

Bone Marrow

47%

Lung

45%

Brain

45%

Gene Interaction Network6 neighbors

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Structure14 PDB hits

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PDB8XL6 · 2.29 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.82LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.65 [0.52–0.82]

Rankings3 dim

Where MCCC1 stands among ~20K protein-coding genes

#3,282of 20,598
Most Researched140 · top quartile
#331of 5,509
Most Pathogenic Variants204 · top 10%
#6,934of 17,882
Most Constrained (LOEUF)0.82