EI2BE_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
EIF2B5
, EIF2BE
Protein names and data:
EI2BE_HUMAN
, Translation initiation factor eIF-2B subunit epsilon
, eIF-2B GDP-GTP exchange factor subunit epsilon
Lenght: 721 a.a.
Mass: 80380 Da
fasta formatted sequence
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Disease:
( OMIM:
603896
603945
)
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
62 - 62
D -> V (in VWM). VAR_068457
68 - 68
L -> S (in VWM). VAR_068458
73 - 73
V -> G (in VWM). VAR_012323
74 - 74
A -> T (in VWM). VAR_068459
91 - 91
T -> A (in VWM; dbSNP:rs28939717). VAR_012291
28939717
106 - 106
L -> F (in VWM). VAR_012324
113 - 113
R -> C (in VWM). VAR_068460
113 - 113
R -> H (in VWM; with ovarian failure; dbSNP:rs113994049). VAR_012292
113994049
195 - 195
R -> C (in VWM; with ovarian failure). VAR_016845
195 - 195
R -> H (in VWM; Cree leukoencephalopathy type). VAR_016846
200 - 200
N -> T (in dbSNP:rs2971409). VAR_048919
2971409
269 - 269
R -> G (in VWM). VAR_068461
269 - 269
R -> Q (in VWM). VAR_068462
270 - 270
D -> H (in VWM). VAR_068463
299 - 299
R -> H (in VWM). VAR_012325
310 - 310
C -> F (in VWM). VAR_068464
315 - 315
R -> C (in VWM). VAR_068465
315 - 315
R -> G (in VWM). VAR_012326
315 - 315
R -> H (in VWM). VAR_012327
335 - 335
C -> R (in VWM). VAR_068466
335 - 335
C -> S (in VWM). VAR_068467
339 - 339
R -> P (in VWM). VAR_012328
339 - 339
R -> Q (in VWM). VAR_012329
339 - 339
R -> W (in VWM). VAR_012330
376 - 376
N -> D (in VWM). VAR_068468
386 - 386
G -> V (in VWM). VAR_012293
430 - 430
V -> A (in VWM). VAR_012331
447 - 447
S -> L (in VWM). VAR_068469
587 - 587
I -> V (in dbSNP:rs843358). VAR_012332
843358
628 - 628
W -> R (in VWM; dbSNP:rs28937596). VAR_012294
28937596
650 - 650
E -> K (in VWM). VAR_012333
Database cross-references
UniProt:
Q13144
Ensembl:
ENST00000273783
MIM:
603896
MIM:
603945
neXtProt:
NX_Q13144
Antibodypedia:
Q13144
(may not find the protein thus also not any antibody)
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