MCCC1

Chr 3q27.1

methylcrotonyl-CoA carboxylase subunit 1

Aliases:: MCCA, MCCCα
MANE:: ENST00000265594.9

OMIM: 609010 ↗NCBI: 56922 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MCCC1 · Q96RQ3

v62025-08-01

Predicted Aligned Error matrix for MCCC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.6/ 100

Confident

725 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)23%
Low(50–70)2%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia

Disease associations (Open Targets)

Isolated 3-methylcrotonyl-CoA carboxylase deficiency
0.86
3-methylcrotonyl-CoA carboxylase deficiency
0.73
hereditary disease
0.45
Parkinson disease
0.42
neurodegenerative disease
0.39
Lewy body dementia
0.24
retinitis pigmentosa
0.11
Progressive cone dystrophy
0.09
Cone rod dystrophy
0.09
early-onset non-syndromic cataract
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism