Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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
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| 17. |
NCBI article NCBI 22926
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| 18. |
OMIM.ORG article Omim 605537
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| 19. |
Wikipedia article Wikipedia EN (ATF6)
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