EI2BG_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
EIF2B3
Protein names and data:
EI2BG_HUMAN
, Translation initiation factor eIF-2B subunit gamma
, eIF-2B GDP-GTP exchange factor subunit gamma
Lenght: 452 a.a.
Mass: 50240 Da
fasta formatted sequence
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Disease:
( OMIM:
603896
606273
)
Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
27 - 27
L -> Q (in VWM). VAR_068470
47 - 47
G -> E (in VWM). VAR_068471
87 - 87
A -> V (in VWM). VAR_015409
225 - 225
R -> Q (in VWM). VAR_015410
288 - 288
D -> E (in dbSNP:rs3738247). VAR_048920
3738247
346 - 346
I -> T (in VWM). VAR_068472
Database cross-references
UniProt:
Q9NR50
Ensembl:
ENST00000360403
Ensembl:
ENST00000372183
MIM:
603896
MIM:
606273
neXtProt:
NX_Q9NR50
Antibodypedia:
Q9NR50
(may not find the protein thus also not any antibody)
Local full text data:
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