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401138 AMTN

401138

AMTN

amelotin

protein-coding

Homo sapiens

基因描述

Type Description
Definition amelotin

研究结论

Date Results Publications
2020-10-03 12:53:00 Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration. 32160961
2018-09-22 12:05:00 TNF-alpha stimulates AMTN gene transcription in human gingival epithelial cells via C/EBP1, C/EBP2, and YY1 elements in the human AMTN gene promoter. 29282478
2017-12-23 10:51:00 Results show that AMTN and KLK4 are not essential for biological processes outside of the dentition or during the secretory stage of amelogenesis. Both KLK4 and AMTN proved to be essential for the maturation of dental enamel, a process that requires the removal of extracellularmatrix proteins and the deposition of ions on the sides of enamel crystallites. 26620968
2017-07-15 11:26:00 This study demonstrates for the first time that AMTN mutations cause non-syndromic human Amelogenesis imperfecta (AI) and explores the human phenotype, comparing it with that of mice with disrupted Amtn function. 27412008
2016-03-19 10:54:00 AMTN has a direct influence on biomineralization by promoting hydroxyapatite mineralization. 25407797

名称对应

Type IDs
Synonymous AI3B, UNQ689
Gene
UniProtKB-ID: AMTN_HUMAN, F1T0L8_HUMAN
UniprotKB: Q6UX39, F1T0L8
UniParc: UPI000022C632, UPI00000389F3
EMBL: AY358528, BC121812, AB593161, BC121817
Ensembl: ENSG00000187689
KO: hsa:401138
Nucleutide sequences
EMBL-CDS: AAQ88892.1, AAI21813.1, AAI21818.1, BAJ84092.1
Gene_ORFName: UNQ689/PRO1329
Ensembl_TRS: ENST00000504451, ENST00000339336
Protein sequencees
Ensembl_PRO: ENSP00000422452, ENSP00000341013
RefSeq: NP_997722.1, NP_001273660.1
Others
UniRef100: UniRef100_Q6UX39
UniRef90: UniRef90_Q6UX39
UniRef50: UniRef50_Q6UX39
UniGene: Hs.453069
CCDS: CCDS3542.1, CCDS68716.1

全选

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研究热度

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