Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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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6.

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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7.

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

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8.

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

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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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