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Ovarian Kaleidoscope Database (OKdb)

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eukaryotic translation initiation factor 2B subunit epsilon OKDB#: 5782
 Symbols: EIF2B5 Species: human
 Synonyms: CLE, CACH, LVWM, EIF-2B, EIF2Bepsilon  Locus: 3q27.1 in Homo sapiens


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General Comment NCBI Summary: This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
General function Protein biosynthesis
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes POF (premature ovarian failure)
Mutations 1 mutations

Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: Ovarian failure related to eukaryotic initiation factor 2B mutations. Fogli A et al. (2003) Ovarian failure (OF) at age <40 years occurs in approximately 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. We studied eight patients who presented with premature OF and white-matter abnormalities on magnetic resonance imaging. Neurological signs may be absent or present after OF. In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy. The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway.//////////////////

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created: May 22, 2020, 11:28 a.m. by: system   email:
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last update: May 22, 2020, 11:28 a.m. by: hsueh    email:



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