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432486 Gnptab

432486

Gnptab

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

protein-coding

Mus musculus

基因描述

Type Description
Definition N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

研究结论

Date Results Publications
2014-12-20 13:08:00 novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene. 25107912
2013-09-07 10:39:00 The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II. 23733939
2011-12-05 13:39:00 Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice 19261645
2011-08-20 11:09:00 Vacuolization of mucolipidosis type II mouse exocrine gland cells (GlcNAc-1-phosphotransferase-deficient mice) represents accumulation of autolysosomes. 21325625

名称对应

Type IDs
Synonymous EG432486
Gene
UniProtKB-ID: GNPTA_MOUSE
UniprotKB: Q69ZN6
UniParc: UPI0000471703, UPI00006A77E7
EMBL: AK173132, AK154710, AK140867
Ensembl: ENSMUSG00000035311
KO: mmu:432486
Nucleutide sequences
EMBL-CDS: BAD32410.1, BAE32779.1, BAE24503.1
Ensembl_TRS: ENSMUST00000020251
Protein sequencees
Ensembl_PRO: ENSMUSP00000020251
RefSeq: XP_006513912.1, XP_006513913.1, XP_017169515.1, XP_006513911.1, NP_001004164.2, NP_001351636.1
Others
UniRef100: UniRef100_Q69ZN6
UniRef90: UniRef90_Q69ZN6
UniRef50: UniRef50_Q3T906
UniGene: Mm.335190
CCDS: CCDS24110.1

全选

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研究热度

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