MCCC2

Chr 5q13.2

methylcrotonyl-CoA carboxylase subunit 2

Aliases:: MCCB, MCCCβ
MANE:: ENST00000340941.11

OMIM: 609014 ↗NCBI: 64087 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

MCCC2 · Q9HCC0

v62025-08-01

Predicted Aligned Error matrix for MCCC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.7/ 100

Very high

563 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)2%

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)

3-methylcrotonyl-CoA carboxylase 2 deficiency
0.84
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
0.83
3-methylcrotonyl-CoA carboxylase deficiency
0.71
hereditary disease
0.49
autism spectrum disorder
0.33
spinal muscular atrophy, type IV
0.33
Parkinson disease
0.25
multiple sclerosis
0.25
lysosomal storage disease
0.25
Alzheimer disease
0.25

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

Protein function (UniProt)

Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

Carboxyltransferase 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