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5498 PPOX

5498

PPOX

protoporphyrinogen oxidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition protoporphyrinogen oxidase

研究结论

Date Results Publications
2020-12-26 13:11:00 Two new mutations in the PPOX gene in a patient with variegate porphyria. 32247286
2020-07-04 11:40:00 Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 54 unrelated Variegate Porphyria individuals with 20 PPOX novel mutations. 30385147
2019-06-01 10:21:00 The genetic test showed a heterozygous mutation in the gene encoding Protoporphyrinogen Oxidase (PPOX); c.2T > A (p.Met1Lys) on chromosome 1q23, which supports the diagnosis of Variegate Porphyria 29550908
2018-01-13 10:05:00 the regulation of PPOX gene expression can also occur through a post-transcriptional modulation of the amount of gene product and this modulation can be mediated by 5' untranslated exon 1. 27667166
2016-06-28 11:15:00 GAPDH and protoporphyrinogen oxidase were shown to have higher expression in faster growing cell lines and primary tumors. Pharmacologic inhibition of GAPDH or PPOX reduced the growth of colon cancer cells in vitro 25944804

名称对应

Type IDs
Synonymous PPO, V290M, VP
Gene
UniProtKB-ID: PPOX_HUMAN
UniprotKB: P50336
UniParc: UPI0000000C3C
EMBL: U26446, BC002357, CH471121, AL590714, X99450, D38537
Ensembl: ENSG00000143224
KO: hsa:5498
Nucleutide sequences
EMBL-CDS: BAA07538.1, EAW52641.1, AAA67690.1, EAW52639.1, EAW52636.1, AAH02357.1
Ensembl_TRS: ENST00000352210, ENST00000367999
Protein sequencees
Ensembl_PRO: ENSP00000343943, ENSP00000356978
RefSeq: XP_011507965.1, XP_016857060.1, XP_006711469.2, XP_011507981.1, NP_001337057.1, XP_016857051.1, XP_011507970.1, XP_011507972.1, XP_006711465.2, NP_001352329.1, NP_001116236.1, XP_011507969.1, XP_016857048.1, NP_001352328.1, XP_016857052.1, XP_011507980.1, XP_011507968.1, NP_001337060.1, NP_001352327.1, XP_005245352.2, XP_011507967.1, XP_016857059.1, XP_024303633.1, XP_006711466.2, XP_016857053.1, XP_011507975.1, XP_024303635.1, XP_024303634.1, XP_011507973.1, NP_000300.1, XP_024303632.1, NP_001337059.1, XP_011507983.1, XP_006711467.2, NP_001352330.1, XP_011507974.1, XP_011507976.1, NP_001337058.1, XP_011507966.1, XP_005245348.2, XP_016857056.1, XP_016857055.1, XP_011507984.1
Others
UniRef100: UniRef100_P50336
UniRef90: UniRef90_P50336
UniRef50: UniRef50_P50336
UniGene: Hs.517373
CCDS: CCDS1221.1

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