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Zentrum für Nephrologie und Stoffwechsel
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Zyklisches-cAMP-abhängiger Transkriptionsfaktor 6 alpha

Das ATF6-Gen kodiert einen Transkriptionsfaktor, der die Transkription verschiedener Chaperone des endoplasmatischen Retikulums steuert. Genetische Variationen dieses gens sind im Zusammenhang mit familiärer kombinierter Hyperlipidämie beschrieben worden.

Gentests:

Forschung 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:

Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9

Referenzen:

1.

Hai TW et al. (1989) Transcription factor ATF cDNA clones: an extensive family of leucine zipper proteins able to selectively form DNA-binding heterodimers.

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2.

Meex SJ et al. (2009) The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels.

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3.

Ansar M et al. (2015) Mutation of ATF6 causes autosomal recessive achromatopsia.

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4.

Kohl S et al. (2015) Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

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5.

Higa A et al. (2014) Endoplasmic reticulum stress-activated transcription factor ATF6α requires the disulfide isomerase PDIA5 to modulate chemoresistance.

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6.

Meex SJ et al. (2007) Activating transcription factor 6 polymorphisms and haplotypes are associated with impaired glucose homeostasis and type 2 diabetes in Dutch Caucasians.

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7.

Thameem F et al. (2006) Association of amino acid variants in the activating transcription factor 6 gene (ATF6) on 1q21-q23 with type 2 diabetes in Pima Indians.

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8.

Shen J et al. (2002) ER stress regulation of ATF6 localization by dissociation of BiP/GRP78 binding and unmasking of Golgi localization signals.

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9.

Sommer T et al. (2002) BiP binding keeps ATF6 at bay.

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10.

Ye J et al. (2000) ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs.

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11.

Li M et al. (2000) ATF6 as a transcription activator of the endoplasmic reticulum stress element: thapsigargin stress-induced changes and synergistic interactions with NF-Y and YY1.

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12.

Haze K et al. (1999) Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress.

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13.

Yoshida H et al. (1998) Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins. Involvement of basic leucine zipper transcription factors.

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14.

Zhu C et al. (1997) Interaction of ATF6 and serum response factor.

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15.

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

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16.

Orphanet article

Orphanet ID 436836 external link
17.

NCBI article

NCBI 22926 external link
18.

OMIM.ORG article

Omim 605537 external link
Update: 14. August 2020
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