EI2BB_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
EIF2B2
, EIF2BB
Protein names and data:
EI2BB_HUMAN
, Translation initiation factor eIF-2B subunit beta
, S20I15; S20III15; eIF-2B GDP-GTP exchange factor subunit beta
Lenght: 351 a.a.
Mass: 38990 Da
fasta formatted sequence
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Disease:
( OMIM:
603896
606454
)
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
85 - 85
V -> E (in VWM). VAR_068451
171 - 171
S -> F (in VWM; with ovarian failure). VAR_016842
196 - 196
P -> S (in VWM). VAR_068452
200 - 200
G -> V (in VWM). VAR_068453
213 - 213
E -> G (in VWM; with and without ovarian failure). VAR_012289
268 - 268
C -> Y (in VWM). VAR_068454
273 - 273
K -> R (in VWM). VAR_012321
316 - 316
V -> D (in VWM). VAR_012290
329 - 329
G -> V (in VWM). VAR_012322
Database cross-references
UniProt:
P49770
Ensembl:
ENST00000266126
MIM:
603896
MIM:
606454
neXtProt:
NX_P49770
Antibodypedia:
P49770
(may not find the protein thus also not any antibody)
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