Activating Transcription Factor 6

Alternative Names

ATF6
Activating Transcription Factor 6, Alpha
ATF6A

Length

197,827 bases

No. of Exons

No. of isoforms

Protein Name

Cyclic AMP-Dependent Transcription Factor ATF-6 Alpha

Molecular Mass

74585 Da

Amino Acid Count

670

Genomic Location

chr1:161,766,319-161,964,069

Gene Map Locus

1q23.3

Description

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_007348.4:c.949C>T	Saudi Arabia	chr1:161819672		Likely Pathogenic	Achromatopsia 7	NG_029773.1:g.58429C>T; NM_007348.4:c.949C>T; NP_031374.2:p.Arg317Ter	146640460

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6

Contributors

Sayeeda Hana: 04.06.2020

Edit History

Sayeeda Hana: 04.06.2020

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