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84572 GNPTG

84572

GNPTG

N-acetylglucosamine-1-phosphate transferase subunit gamma

protein-coding

Homo sapiens

基因描述

Type Description
Definition N-acetylglucosamine-1-phosphate transferase subunit gamma

研究结论

Date Results Publications
2020-08-01 10:58:00 We evaluated 51 stuttering individuals with a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant. 31003007
2020-03-21 10:10:00 Data provide an overview on 50 mutations in GNPTG including seven novel variants. GNPTG mutations apparently are associated with a milder phenotype and better prognosis compared with GNPTAB mutations in patients with mucolipidosis. 30882951
2019-01-05 10:45:00 Whole exome sequencing found an insertion mutation c.478_479insTAGG in GNTPG, which cosegregated with the Mucolipidosis III Gamma disease phenotype in the family. 30235039
2018-02-10 11:46:00 14 variations were found in GNPTAB, GNPTG and NAGPA genes. 29289611
2017-12-30 11:05:00 Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis. 29170090

名称对应

Type IDs
Synonymous C16orf27, GNPTAG, LP2537, RJD9
Gene
UniProtKB-ID: GNPTG_HUMAN
UniprotKB: Q9UJJ9
UniParc: UPI0000073F3C
EMBL: AF302786, AL031709, AY203933, CH471112, AK312067, BC014592
Ensembl: ENSG00000090581
KO: hsa:84572
Nucleutide sequences
EMBL-CDS: AAG27706.1, EAW85668.1, AAH14592.1, BAG35003.1, AAP34456.1, CAB56184.1
Gene_ORFName: LP2537, CAB56184
Ensembl_TRS: ENST00000204679
Protein sequencees
Ensembl_PRO: ENSP00000204679
RefSeq: XP_016879272.1, XP_016879271.1, NP_115909.1
Others
UniRef100: UniRef100_Q9UJJ9
UniRef90: UniRef90_Q9UJJ9
UniRef50: UniRef50_Q9UJJ9
UniGene: Hs.241575
CCDS: CCDS10436.1

全选

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