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MPC1

mitochondrial pyruvate carrier 1

HCNC Approved Symbol
MPC1 (HGNC:21606)
Genomic Coordinates
6:166,364,919 - 166,382,940 (6q27)
Synonyms
dJ68L15.3, CGI-129, SLC54A1, BRP44L
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the MPC1 gene.

Frequently observed phenotypes

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

Acidemia
 1 (100.0%)
Aciduria
 1 (100.0%)
Respiratory difficulties
 1 (100.0%)
Tachypnea
 1 (100.0%)
MPC1 - Gene browser | 3billion