Mitochondrial pyruvate carrier 1

MPC1

Identifiers

Aliases

External IDs

GeneCards: [1]; OMA:- orthologs

Orthologs

Species

Human

Mouse

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Wikidata

View/Edit Human

Mitochondrial pyruvate carrier 1 (MPC1), also known as brain protein 44-like (BRP44L) and SLC54A1, is a protein that in humans is encoded by the MPC1 gene.^[1] It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance

Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MCT1 gene on chromosome 6q27. It is an inborn error of carbohydrate metabolism that blocks aerobic glycolysis by preventing the transport of pyruvate from the cytosol into the mitochondrion for oxidative phosphorylation; however, anaerobic glycolysis is preserved. Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia.^[2]

References

^ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2023-08-21.
^ "MITOCHONDRIAL PYRUVATE CARRIER 1; MPC1". omim.org. Retrieved 2023-08-21.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance
Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption De Vivo Disease (GLUT1 deficiency) Fanconi-Bickel syndrome (GLUT2 deficiency)

Hexose → glucose

Monosaccharide catabolism

Fructose:	Essential fructosuria Fructose intolerance
Galactose / galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis

GSD type 0 (glycogen synthase deficiency)
GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)
Lafora disease
GSD type XV (glycogenin deficiency)

Glycogenolysis

Extralysosomal:	GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Phosphoglucomutase deficiency (PGM1-CDG, CDG1T, formerly GSD-XIV)
Lysosomal (LSD):	Glycogen storage disease type II (Pompe's disease, glucosidase deficiency, formerly GSD-IIa) Danon disease (LAMP2 deficiency, formerly GSD-IIb)

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Aldolase A deficiency Phosphoglucose isomerase deficiency Phosphoglycerate kinase deficiency Mitochondrial pyruvate carrier deficiency (MPC1 deficiency)
Gluconeogenesis	Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency
Transaldolase deficiency
SDDHD (Transketolase deficiency)
6-phosphogluconate dehydrogenase deficiency

Other

Hyperoxaluria
- Primary hyperoxaluria
Pentosuria
Fatal congenital nonlysosomal cardiac glycogenosis (AMP-activated protein kinase deficiency, PRKAG2)

v t e Genetic disorder, membrane: Solute carrier disorders
1-10	SLC1A3 Episodic ataxia 6 SLC1A4 SPATCCM SLC2A1 De Vivo disease SLC2A2 Fanconi-Bickel syndrome SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria
11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A3 Von Gierke's disease, GSD-Ic SLC17A5 Salla disease SLC17A8 DFNA25
21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC37A4 Von Gierke's disease, GSD-Ib SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload
51-60	SLC54A1 (Mitochondrial pyruvate carrier deficiency)
see also solute carrier family

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Interactive pathway map

Clinical significance

See also

References