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56603 CYP26B1

56603

CYP26B1

cytochrome P450 family 26 subfamily B member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytochrome P450 family 26 subfamily B member 1

研究结论

Date Results Publications
2020-08-01 13:31:00 This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues. 31419517
2019-05-11 13:19:00 Individuals with the rs138478634-GA genotype had significantly lower levels of serum all-trans retinoic acid, an anticancer nutrient, than those with the rs138478634-GG genotype (P = 0.0004), most likely due to an enhanced capacity of variant CYP26B1 to catabolize this agent. These findings emphasize the important role of rare coding variants in the development of Esophageal squamous cell carcinoma. 29379198
2019-03-02 12:08:00 Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient. 29606097
2017-10-21 10:33:00 we provide the third family affected by the disorder and the first affected individual to survive beyond infancy. This woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability, a phenotype with significant similarities to Antley-Bixler and Pfeiffer syndromes. 27410456
2017-09-30 10:11:00 Study investigated the distribution of Cyp26a1 and Cyp26b1 transcripts in the rat and human brain, identifying several novel regions of expression, including the cerebral cortex for both enzymes and striatum for Cyp26b1. 26374207

名称对应

Type IDs
Synonymous CYP26A2, P450RAI-2, P450RAI2, RHFCA
Gene
UniProtKB-ID: CP26B_HUMAN, E7ER08_HUMAN
UniprotKB: Q9NR63, E7ER08
UniParc: UPI000003DC62, UPI000003F053, UPI0001E8F160, UPI0001914D61
EMBL: AK294814, AK295683, AC007002, BC069443, FJ467289, AK294933, AK313433, AF252297, BC109205
Ensembl: ENSG00000003137
KO: hsa:56603
Nucleutide sequences
EMBL-CDS: BAH12154.1, BAH11892.1, ACR19332.1, AAH69443.1, AAI09206.1, AAF76003.1, BAH11930.1, BAG36224.1, AAY14690.1
Ensembl_TRS: ENST00000001146, ENST00000546307, ENST00000412253
Protein sequencees
Ensembl_PRO: ENSP00000001146, ENSP00000443304, ENSP00000401465
RefSeq: XP_005264490.1, NP_063938.1, XP_011531290.1, NP_001264671.1
Others
UniRef100: UniRef100_Q9NR63
UniRef90: UniRef90_Q9NR63
UniRef50: UniRef50_Q9NR63
UniGene: Hs.91546
CCDS: CCDS62934.1, CCDS1919.1

全选

研究热度
发表文献
研究结论
热点单位
排名 科研单位 文献
1

University of Washington

6
2

Örebro University

4
3

College of Dental Medicine

3
4

College of Life Science

2
5

Queen's University

2
热点人员
排名 研究人员 文献
1

Nina Isoherranen

6
2

Allan Sirsjö

5
3

Ali Ateia Elmabsout

5
4

Richard M Myers

3
5

Marco A Marra

3
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