EI2BD_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:
EIF2B4
, EIF2BD
Protein names and data:
EI2BD_HUMAN
, Translation initiation factor eIF-2B subunit delta
, eIF-2B GDP-GTP exchange factor subunit delta
Lenght: 523 a.a.
Mass: 57557 Da
fasta formatted sequence
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Disease:
( OMIM:
603896
606687
)
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
93 - 93
A -> V (in dbSNP:rs34155621). VAR_048918
34155621
209 - 209
R -> Q (in VWM). VAR_068455
228 - 228
A -> V (in VWM). VAR_015405
269 - 269
L -> R (in VWM). VAR_068456
306 - 306
R -> G (in dbSNP:rs78599355). VAR_015406
78599355
357 - 357
R -> Q (in VWM). VAR_015407
374 - 374
R -> C (in VWM). VAR_015408
465 - 465
C -> R (in VWM; with ovarian failure). VAR_016843
489 - 489
Y -> H (in VWM; with ovarian failure). VAR_016844
Database cross-references
UniProt:
Q9UI10
Ensembl:
ENST00000347454
Ensembl:
ENST00000445933
Ensembl:
ENST00000451130
MIM:
603896
MIM:
606687
neXtProt:
NX_Q9UI10
Antibodypedia:
Q9UI10
(may not find the protein thus also not any antibody)
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