Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cyclic AMP-dependent transcription factor ATF-6 alpha

The ATF6 gene encodes a transcription factor that controls transcription of endoplasmatic reticulum chparons. Genetic variations are reported to be associated with familial combined hyperlipidemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with dysfunctional LDL clearance
ATF6
LDLR
PCSK9

References:

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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Update: Sept. 26, 2018