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10117 ENAM

10117

ENAM

enamelin

protein-coding

Homo sapiens

基因描述

Type Description
Definition enamelin

研究结论

Date Results Publications
2020-09-26 13:05:00 ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations. 32178265
2020-06-27 11:28:00 Two novel ENAM frameshift mutations were identified. A single-nucleotide duplication replaced amino acids 133-1142 with a 12 amino acid sequence, and a single-nucleotide deletion replaced amino acids 921-1142 with 31 amino acids (ESSPQQASYQAKETAQRRGKAKTLLEMMCPR*). 31478359
2019-11-09 10:35:00 An ENAM nonsense mutation identified in a family with hypoplastic amelogenesis imperfecta resulted in a highly variable clinical phenotype in individuals with a heterozygous mutant allele. 29554435
2018-11-17 12:26:00 Lack of association between the ENAM polymorphism (rs12640848) and dental caries in Czech children was detected. 29185146
2018-05-05 12:12:00 The ENAM and TNF-alpha genes were likely associated with caries occurrence in Chinese children. The ENAM rs3796703 CT and TNF-alpha rs1800629 AG genotypes might be involved in caries susceptibility and protection, respectively. 28395167

名称对应

Type IDs
Synonymous ADAI, AI1C, AIH2
Gene
UniProtKB-ID: ENAM_HUMAN
UniprotKB: Q9NRM1
UniParc: UPI000013CE60
EMBL: EU482096, BC117310, AF125373, CH471057, BC117308, AF210247
Ensembl: ENSG00000132464
KO: hsa:10117
Nucleutide sequences
EMBL-CDS: AAG43242.1, ACA43029.1, AAI17309.1, EAX05625.1, AAF73847.1, AAI17311.1
Ensembl_TRS: ENST00000396073
Protein sequencees
Ensembl_PRO: ENSP00000379383
RefSeq: NP_114095.2, NP_001355062.1, XP_006714119.1
Others
UniRef100: UniRef100_Q9NRM1
UniRef90: UniRef90_Q9NRM1
UniRef50: UniRef50_Q9NRM1
UniGene: Hs.667018
CCDS: CCDS3544.2

全选

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