MMUT - Gene browser

MMUT

methylmalonyl-CoA mutase

HCNC Approved Symbol: MMUT (HGNC:7526)
Genomic Coordinates: 6:49,430,360 - 49,463,253 (6p12.3)
Synonyms: MCM, MUT
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the MMUT gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Methylmalonic acidemia: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Hypoglycemia: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Metabolic acidosis: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Infantile death: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hyperammonemia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)