Recombinant Human Proline dehydrogenase 1, mitochondrial (PRODH)

Uniprot Id

O43272

Target Species

Human

Target Name

PRODH

Target Full Name

Proline dehydrogenase 1, mitochondrial

Target Function

Converts proline to delta-1-pyrroline-5-carboxylate.

Target Involvement

Hyperprolinemia 1 (HYRPRO1); Schizophrenia 4 (SCZD4)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Proline oxidase family

Target Tissue Specificity

Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

Target Synonyms

HSPOX2; mitochondrial; P53 induced gene 6 protein ; p53-induced gene 6 protein; PIG6; POX; PROD_HUMAN; PRODH 1; PRODH 2; PRODH; PRODH1; PRODH2; Proline dehydrogenase ; proline dehydrogenase (oxidase) 1; proline dehydrogenase (proline oxidase); Proline dehydrogenase 1; Proline dehydrogenase 1, mitochondrial; Proline oxidase 1; Proline oxidase 2; Proline oxidase; Proline oxidase, mitochondrial; Proline oxidase, mitochondrial precursor ; SCZD4; TP53I6; tumor protein p53 inducible protein 6

Target Background

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.