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1371 CPOX

1371

CPOX

coproporphyrinogen oxidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition coproporphyrinogen oxidase

研究结论

Date Results Publications
2020-07-04 11:40:00 Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 29 unrelated Hereditary Coproporphyria individuals with 11 previously unreported CPOX mutations. 30385147
2014-10-11 10:13:00 The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from Hereditary coproporphyria (HCP) mutant showed low activity (<20% of the control). 24078084
2013-03-02 13:07:00 Polymorphism of coproporphyrinogen oxidase is associated with genetic susceptibility to the adverse neurobehavioral effects of Hg exposure in children. 22765978
2012-08-11 10:40:00 Deletion of the fifth exon in the CPOX gene is associated with hereditary coproporphyria. 21231929
2012-02-25 11:37:00 CPOX polymorphisms are associated with biological media contamination and apoptosis disorders. 22288185

名称对应

Type IDs
Synonymous COX, CPO, CPX, HCP
Gene
UniProtKB-ID: HEM6_HUMAN
UniprotKB: P36551
UniParc: UPI00017A7A61, UPI0000073C93
EMBL: AK290140, Z34803, BC017210, AK223481, Z34808, Z34806, Z34531, Z28409, Z34807, CH471052, BC023551, Z34804, AK299692, BC023554, Z34805, D16611
Ensembl: ENSG00000080819
KO: hsa:1371
Nucleutide sequences
EMBL-CDS: AAH23551.1, BAD97201.1, AAH23554.1, CAA82250.1, BAG61597.1, CAA84292.1, EAW79854.1, BAF82829.1, AAH17210.1, BAA04033.1
Ensembl_TRS: ENST00000647941
Protein sequencees
Ensembl_PRO: ENSP00000497326
RefSeq: XP_005247182.1, NP_000088.3
Others
UniRef100: UniRef100_P36551
UniRef90: UniRef90_P36551
UniRef50: UniRef50_P36551
UniGene: Hs.476982
CCDS: CCDS2932.1

全选

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