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. Alteatively spliced transcript variants encoding different isoforms have been found for this gene.
Categories
Primary Antibodies
Clonality
polyclonal
Description
Converts proline to delta-1-pyrroline-5-carboxylate.
Host
Rabbit
Immunogen
proline dehydrogenase (oxidase) 1
Isotype
IgG
Molecular Weight
68 kDa
Reactivity
Human, Mouse
Regulatory
RUO
Synonyms
PIG6, POX2
Uniprot
O43272
Gene Id
5625
Research Area
Metabolism
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)