Brp44L Polyclonal Antibody, 100ul Cell Separation and Collection Mutations in SLC5A2 are associated

Mutations in SLC5A2 are associated with renal glucosuria

Multiple transcript variants encoding different isoforms have been reported

Calcineurin B homologous protein 1

thereby terminating the signal

Mutations in this gene are associated with dolichol kinase deficiency

Brp44L Polyclonal Antibody, 100ul Cell Separation and Collection Mutations in SLC5A2 are associatedThe protein encoded by MPC1 is part of an MPC1 MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein (mitochondrial pyruvate carrier 1) is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non protein coding, have been found for MPC1.