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84668 FAM126A

84668

FAM126A

family with sequence similarity 126 member A

protein-coding

Homo sapiens

基因描述

Type Description
Definition family with sequence similarity 126 member A

研究结论

Date Results Publications
2019-08-24 12:44:00 Downregulation of Drosophila TTC7 and Hyccin also reduces neuronal Abeta accumulation and associated synaptic and motor defects as well as premature death in Abeta42-expressing flies, while overexpression of TTC7 and Hyccin produced the opposite effect. 30103315
2016-05-14 10:54:00 point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis 26571211
2014-12-20 12:39:00 A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments. 24417797
2013-11-23 10:31:00 Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families. 23998934
2013-07-27 12:06:00 Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract 22749724

名称对应

Type IDs
Synonymous DRCTNNB1A, HCC, HLD5, HYCC1
Gene
UniProtKB-ID: HYCCI_HUMAN
UniprotKB: Q9BYI3
UniParc: UPI000006FF45, UPI0000469B0A, UPI000006D71E
EMBL: AK056319, CH236948, AB030241, BC018710, KU178809, BX640757, AC006039, CH471073, AC005682, AK054887, KU178808
Ensembl: ENSG00000122591
KO: hsa:84668
Nucleutide sequences
EMBL-CDS: CAE45864.1, EAL24262.1, ALQ34267.1, EAW93768.1, BAB39849.1, AAS01991.1, AAS07519.1, BAB71148.1, BAB70823.1, AAH18710.1, ALQ34266.1, EAW93767.1
Ensembl_TRS: ENST00000432176, ENST00000409923
Protein sequencees
Ensembl_PRO: ENSP00000386246, ENSP00000403396
RefSeq: NP_115970.2, NP_001350395.1, NP_001350396.1, XP_011513891.1, XP_011513892.1
Others
UniRef100: UniRef100_Q9BYI3
UniRef90: UniRef90_Q9BYI3
UniRef50: UniRef50_Q9BYI3
UniGene: Hs.85603
CCDS: CCDS5377.1, CCDS87486.1

全选

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