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26873 OPLAH

26873

OPLAH

5-oxoprolinase, ATP-hydrolysing

protein-coding

Homo sapiens

基因描述

Type Description
Definition 5-oxoprolinase, ATP-hydrolysing

研究结论

Date Results Publications
2017-12-09 11:15:00 An autosomal recessive mode of inheritance for 5-oxoprolinase deficiency is further supported by the identification of a single mutation in all 9/14 parent sample sets investigated (except for the father of one patient whose result suggests homozygosity), and the absence of 5-oxoprolinuria in all tested heterozygotes 27477828
2016-07-16 11:34:00 In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated. 25851806
2010-08-09 12:15:00 the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase 20413906

名称对应

Type IDs
Synonymous 5-Opase, OPLA, OPLAHD
Gene
UniProtKB-ID: OPLA_HUMAN
UniprotKB: O14841
UniParc: UPI000035154E
EMBL: AL096750, BC142672, AH005594, AB122018
Ensembl: ENSG00000178814
KO: hsa:26873
Nucleutide sequences
EMBL-CDS: CAB46426.2, AAI42673.1, BAD13434.1, AAB81519.1
Ensembl_TRS: ENST00000618853
Protein sequencees
Ensembl_PRO: ENSP00000480476
RefSeq: XP_011515262.1, NP_060040.1
Others
UniRef100: UniRef100_O14841
UniRef90: UniRef90_O14841
UniRef50: UniRef50_O14841
UniGene: Hs.305882
CCDS: CCDS75802.1

全选

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研究热度

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