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84695 LOXL3

84695

LOXL3

lysyl oxidase like 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition lysyl oxidase like 3

研究结论

Date Results Publications
2020-04-04 12:35:00 we present here a child and his father with Stickler syndrome and homozygous novel mutation in LOXL3 c.1036C>T (p.Arg346Trp). This report adds more evidence that biallelic mutations in LOXL3 cause autosomal recessive Stickler syndrome. 30362103
2019-12-28 11:49:00 LOXL3 function beyond amino oxidase and role in pathologies, including cancer, has been described. (Review) 31340433
2019-09-21 12:14:00 results reveal an unexpected role for LOXL3 in the control of genome stability and melanoma progression, exposing its potential as a novel therapeutic target in malignant melanoma, a very aggressive condition yet in need for more effective treatment options. 29229995
2019-03-23 10:27:00 LOXL1, LOXL3, and LOXL4 expressions are associated with distant metastasis of gastric cancer. 30045039
2018-10-20 10:19:00 Missense variant in LOXL3 gene is associated with nonsyndromic cleft palate. 29802726

名称对应

Type IDs
Synonymous LOXL
Gene
UniProtKB-ID: LOXL3_HUMAN
UniprotKB: P58215
UniParc: UPI000069A922, UPI0000044959, UPI000037832F
EMBL: AF311313, DQ378059, AC005033, AC005041, AF284815, AF282619, CH471053, BC071865
Ensembl: ENSG00000115318
KO: hsa:84695
Nucleutide sequences
EMBL-CDS: EAW99615.1, ABD23013.1, AAH71865.1, EAW99616.1, AAK63205.1, AAK91134.1, AAK51671.1
Ensembl_TRS: ENST00000393937, ENST00000264094
Protein sequencees
Ensembl_PRO: ENSP00000377512, ENSP00000264094
RefSeq: XP_024308945.1, XP_024308944.1, NP_001276093.1, NP_115992.1, XP_024308946.1, NP_001276094.1, XP_011531436.1, XP_016860601.1
Others
UniRef100: UniRef100_P58215
UniRef90: UniRef90_P58215
UniRef50: UniRef50_P58215
UniGene: Hs.469045
CCDS: CCDS1953.1, CCDS74527.1

全选

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