靶标:
PRODH
产品别名:
HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6; PRODH; proline dehydrogenase 1; proline dehydrogenase 1; proline dehydrogenase 1, mitochondrial; p53-induced gene 6 protein; proline dehydrogenase (oxidase) 1; proline oxidase 2; proline oxidase, mitochondrial; tumor protein p53 inducible protein 6; 脯氨酸脱氢酶; 脯氨酸脱氢酶(PRODH);
背景信息:
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.