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MCCC1

Synonyms
MCC-B, MCCA, MCCCalpha
External resources
Summary
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
25
Likely pathogenic
0
VUS
2,137
Likely benign
905
Benign
180

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on MCCC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
28%
Abnormality of head or neck
24%
Abnormality of the cardiovascular system
24%
Abnormality of the nervous system
24%
Growth abnormality
24%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the digestive system
16%
Abnormality of limbs
12%
Abnormality of the ear
12%
Abnormality of the endocrine system
12%
Abnormality of the integument
12%
Abnormality of prenatal development or birth
8%
Abnormality of the respiratory system
8%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the breast
4%
Abnormality of the immune system
4%
Neoplasm
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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