| Type | Description |
|---|---|
| Definition | glycyl-tRNA synthetase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:58:00 | GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. | 32181591 |
| 2020-11-21 13:25:00 | Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants. | 31985473 |
| 2020-06-20 12:03:00 | A novel heterozygous missense mutation c.794C>A (p.Ser265Tyr) in the GARS gene associated with Charcot-Marie-Tooth disease in a Malian family. | 31173493 |
| 2019-04-13 12:11:00 | we have demonstrated that CMT2D mice display a pathological phenotype restricted to the nervous system, and that GlyRS-mediated disruption of Nrp1/VEGF-A signalling appears to be permissive to capillary maturation and maintenance. | 28835631 |
| 2019-03-02 10:11:00 | ignificant alterations of the vesicle-associated membrane protein-associated protein B (VAPB) and its downstream pathways such as mitochondrial calcium uptake and autophagy were detected in dominant GARS mutations. The role of VAPB has been supported by similar results in the GarsC210R mice. Our data suggest that altered mitochondria-associated endoplasmic reticulum (ER) membranes (MAM) may be important disease mechanisms | 29648643 |
| Type | IDs |
|---|---|
| Synonymous | CMT2D, DSMAV, GlyRS, HMN5, SMAD1 |
| Gene |
UniProtKB-ID:
GARS_HUMAN,
A0A090N8G0_HUMAN
UniprotKB:
P41250,
A0A090N8G0
UniParc:
UPI0000161B4F,
UPI00005A885C
EMBL:
BC007755,
U09510,
AC004976,
AK295490,
D30658,
AACC02000087,
BC007722,
U09587,
AK074524,
AC006969,
AC005154
Ensembl:
ENSG00000106105
KO:
hsa:2617
|
| Nucleutide sequences |
EMBL-CDS:
AAH07722.1,
AAH07755.1,
AAA86443.1,
BAA06338.1,
BAG51964.1,
AAC71652.1,
BAG58412.1,
AAA57001.1,
EAL24449.1
Gene_ORFName:
tcag7.674
Ensembl_TRS:
ENST00000389266
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000373918
RefSeq:
XP_006715749.1,
NP_002038.2,
NP_001303701.1
|
| Others |
UniRef100:
UniRef100_P41250
UniRef90:
UniRef90_P41250
UniRef50:
UniRef50_P41250
UniGene:
Hs.404321
CCDS:
CCDS43564.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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