| Type | Description |
|---|---|
| Definition | eukaryotic translation initiation factor 2 subunit gamma |
| Date | Results | Publications |
|---|---|---|
| 2019-08-24 12:09:00 | Our data suggest that the p.Pro432Ser mutation impairs eIF2gamma function leading to a relatively mild novel phenotype compared with previous EIF2S3 mutations. Our studies support a critical role for EIF2S3 in human hypothalamo-pituitary development and function, and glucose regulation, expanding the range of phenotypes associated with EIF2S3 mutations beyond classical MEHMO syndrome. | 30878599 |
| 2019-08-24 11:27:00 | Results suggest that the I259M mutation impairs binding, causing altered control of protein synthesis that underlies MEHMO syndrome. | 30517694 |
| 2018-10-06 11:02:00 | We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene | 29303605 |
| 2018-01-13 14:49:00 | Data suggest that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms. | 28055140 |
| 2017-10-21 10:40:00 | Our data confirm that EIF2S3 mutation is implicated in a rare, but recognizable, form of syndromic intellectual disability. | 27333055 |
| Type | IDs |
|---|---|
| Synonymous | EIF2, EIF2G, EIF2gamma, MEHMO, MRXSBRK, eIF-2gA |
| Gene |
UniProtKB-ID:
IF2G_HUMAN
UniprotKB:
P41091
UniParc:
UPI0000163BD6
EMBL:
AK312247,
CH471074,
AK290397,
AK222577,
AB451353,
AB451230,
L19161,
BC019906
Ensembl:
ENSG00000130741
KO:
hsa:1968
|
| Nucleutide sequences |
EMBL-CDS:
AAA19696.1,
EAW99011.1,
BAG35179.1,
AAH19906.1,
BAF83086.1,
BAD96297.1,
EAW99010.1,
EAW99012.1,
BAG70044.1,
BAG70167.1
Ensembl_TRS:
ENST00000253039
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000253039
RefSeq:
NP_001406.1
|
| Others |
UniRef100:
UniRef100_P41091
UniRef90:
UniRef90_P41091
UniRef50:
UniRef50_P41091
UniGene:
Hs.539684
CCDS:
CCDS14210.1
|