| Type | Description |
|---|---|
| Definition | N-acetylglucosamine-1-phosphate transferase subunit gamma |
| 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 |
| 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
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
National Institute on Deafness and Other Communication Disorders |
4 |
| 2 |
University Medical Center Hamburg-Eppendorf |
3 |
| 3 |
Washington University School of Medicine |
2 |
| 4 |
Hollins Communications Research Institute |
2 |
| 5 |
Biogen Inc., 250 Binney Street, Cambridge, Massachusetts 02142, USA. |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Sandra Pohl |
5 |
| 2 |
Dennis Drayna |
4 |
| 3 |
Richard M Myers |
3 |
| 4 |
Jeremy Schmutz |
3 |
| 5 |
Jane Grimwood |
3 |