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342035 GLDN

342035

GLDN

gliomedin

protein-coding

Homo sapiens

基因描述

Type Description
Definition gliomedin

研究结论

Date Results Publications
2018-06-02 12:00:00 Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period. 28726266
2017-05-27 10:57:00 data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies 27616481
2012-08-25 11:05:00 gliomedin, NF186, and contactin are novel target antigens in Guillain-Barre syndrome 22462667
2012-02-25 11:27:00 Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier 22009740

名称对应

Type IDs
Synonymous CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112
Gene
UniProtKB-ID: GLDN_HUMAN, Q14DE1_HUMAN
UniprotKB: Q6ZMI3, Q14DE1
UniParc: UPI00001D6914, UPI000015FAA3, UPI00001FE4BC
EMBL: AY358144, BX538105, BC113397, BK001262, BC113399, AK172756
Ensembl: ENSG00000186417
KO: hsa:342035
Nucleutide sequences
EMBL-CDS: DAA01143.1, BAD18742.1, CAD98018.1, AAQ88511.1, AAI13400.1, AAI13398.1
Gene_ORFName: UNQ9339/PRO34011
Ensembl_TRS: ENST00000396399, ENST00000612989, ENST00000335449
Protein sequencees
Ensembl_PRO: ENSP00000335196, ENSP00000479249, ENSP00000379681
RefSeq: XP_016877613.1, NP_001317226.1, XP_016877610.1, NP_861454.2, XP_016877615.1, XP_016877611.1, XP_016877614.1, XP_011519803.1
Others
UniRef100: UniRef100_Q14DE1, UniRef100_Q6ZMI3
UniRef90: UniRef90_Q6ZMI3, UniRef90_D2HEH7
UniRef50: UniRef50_A0A1D5PCZ4, UniRef50_Q6ZMI3
UniGene: Hs.526441
CCDS: CCDS81882.1, CCDS10140.2

全选

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