EI2BA_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:
EIF2B1
, EIF2BA
Protein names and data:
EI2BA_HUMAN
, Translation initiation factor eIF-2B subunit alpha
, eIF-2B GDP-GTP exchange factor subunit alpha
Lenght: 305 a.a.
Mass: 33712 Da
fasta formatted sequence
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Disease:
( OMIM:
603896
606686
)
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
183 - 183
V -> F (in VWM). VAR_068450
208 - 208
N -> Y (in VWM). VAR_015404
Database cross-references
UniProt:
Q14232
Ensembl:
ENST00000424014
MIM:
603896
MIM:
606686
neXtProt:
NX_Q14232
Antibodypedia:
Q14232
(may not find the protein thus also not any antibody)
Local full text data:
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