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5053 PAH

5053

PAH

phenylalanine hydroxylase

protein-coding

Homo sapiens

基因描述

Type Description
Definition phenylalanine hydroxylase

研究结论

Date Results Publications
2021-03-28 19:08:00 PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS. 33395657
2021-03-06 13:30:00 E3 Ubiquitin Ligase APC/C(Cdh1) Regulation of Phenylalanine Hydroxylase Stability and Function. 33260674
2020-12-19 13:42:00 IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE OF MATO 32074228
2020-12-12 13:25:00 Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. 32069237
2020-10-03 12:56:00 Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study. 31923802

名称对应

Type IDs
Synonymous PH, PKU, PKU1
Gene
UniProtKB-ID: PH4H_HUMAN, A0A024RBG4_HUMAN
UniprotKB: P00439, A0A024RBG4
UniParc: UPI00001318A0
EMBL: S61296, K03020, CH471054, U49897, BC026251
Ensembl: ENSG00000171759
KO: hsa:5053
Nucleutide sequences
EMBL-CDS: AAC51772.1, AAA60082.1, AAD13926.1, AAH26251.1, EAW97701.1, EAW97702.1, EAW97700.1
Gene_ORFName: hCG_21871
Ensembl_TRS: ENST00000553106
Protein sequencees
Ensembl_PRO: ENSP00000448059
RefSeq: XP_016874859.1, NP_000268.1, NP_001341233.1
Others
UniRef100: UniRef100_P00439
UniRef90: UniRef90_P00439
UniRef50: UniRef50_P00439
UniGene: Hs.603740
CCDS: CCDS9092.1

全选

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