Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Eukaryotischer Translations-Initiation-Factor 2-alpha-Kinase 3

Das vom EIF2AK3-Gen kodierte Enzym ist in der Lage die Translation einer jeden Eukarioten Zelle durch Phosphorilierung zu stoppen. Dies hat insbesondere eine wichtige Kontrollfunktion, wenn sich durch chemischen oder physikaischen Stress fehlgefaltete Proteine bilden. Mutationen führen zur autosomal rezessiven Erkrankung Wolcott-Rallison-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wolcott-Rallison-Syndrom
EIF2AK3

Referenzen:

1.

Lin JH et al. (2007) IRE1 signaling affects cell fate during the unfolded protein response.

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2.

al-Gazali LI et al. (1995) Wolcott-Rallison syndrome.

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3.

Delépine M et al. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

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4.

Brickwood S et al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

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5.

Durocher F et al. (2006) A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

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6.

Shi Y et al. (1998) Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control.

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7.

Shi Y et al. (1999) Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells.

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8.

Hayes SE et al. (1999) Assignment of pancreatic eIF-2alpha kinase (EIF2AK3) to human chromosome band 2p12 by radiation hybrid mapping and in situ hybridization.

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9.

Harding HP et al. (2000) Perk is essential for translational regulation and cell survival during the unfolded protein response.

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10.

Harding HP et al. (2001) Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival.

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11.

Zhang P et al. (2002) The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas.

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12.

Blais JD et al. (2004) Activating transcription factor 4 is translationally regulated by hypoxic stress.

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13.

Kittler R et al. (2004) An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division.

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14.

Orphanet article

Orphanet ID 121317 external link
15.

NCBI article

NCBI 9451 external link
16.

OMIM.ORG article

Omim 604032 external link
Update: 14. August 2020
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