Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

Related Diseases:

Combined familial hyperlipidemia with dysfunctional LDL clearance
ATF6
LDLR
PCSK9

References:

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
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.

external link
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.

external link
8.

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

external link
9.

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

external link
10.

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

external link
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.

external link
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.

external link
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.

external link
14.

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

external link
15.

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

external link
16.

Orphanet article

Orphanet ID 436836 external link
17.

NCBI article

NCBI 22926 external link
18.

OMIM.ORG article

Omim 605537 external link
19.

Wikipedia article

Wikipedia EN (ATF6) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues