人 PRODH (NM_001195226) cDNA克隆

Accession: NM_001195226
基因名称: PRODH
基因别名: POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6
基因描述: Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1479 (查看编码区序列)
翻译后氨基酸长度: 492 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing an internal exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and an isoform (2) with a shorter N-terminus compared to isoform 1.
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G124195 人 PRODH (NM_001195226) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Aug 2010]