Autoimmune Regulator

Alternative Names

AIRE

Length

12,811 bases

No. of Exons

No. of isoforms

Protein Name

Autoimmune regulator

Molecular Mass

57727 Da

Amino Acid Count

545

Genomic Location

Chr21:chr21:44,285,838-44,298,648

Gene Map Locus

21q22.3

Description

The AIRE gene codes for a protein that plays a key role in the thymic education process. Th eprotein is therefore, important in the immune system's recognition of self cells versus foreign cells.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000383.2:c.1236_1239dup	Saudi Arabia	Chr21:44293133:44293136		Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.12254_12257dup; NM_000383.2:c.1236_1239dup; NP_000374.1:p.Leu414GlyfsTer11
NM_000383.2:c.93_94insT	Saudi Arabia	Chr21:44286099		Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.5220_5221insT; NM_000383.2:c.93_94insT; NP_000374.1:p.Leu32SerfsTer3
NM_000383.3:c.1A>G	Saudi Arabia	NC_000021.9:g.44286007A>G	Pathogenic	Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.5128A>G; NM_000383.3:c.1A>G; NP_000374.1:p.Met1?	121434258	551136
NM_000383.3:c.205_208dup	Arab; Saudi Arabia	NC_000021.9:g.44286629_44286632dup	Pathogenic	Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.5750_5753dup ; NM_000383.3:c.205_208dup; NP_000374.1:p.Asp70AlafsTer148	886041124	279674
NM_000383.3:c.845_846insC	Saudi Arabia	Chr21:44290035		Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.9156_9157insC ; NM_000383.3:c.845_846insC; NP_000374.1:p.Leu283Serfs*6
NM_000383.4:c.278T>A	Lebanon	chr21:44286702		Likely Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	NG_009556.1:g.5823T>A; NM_000383.4:c.278T>A; NP_000374.1:p.Leu93Gln

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External Links

https://ghr.nlm.nih.gov/gene/AIRE https://www.genecards.org/cgi-bin/carddisp.pl?gene=AIRE https://www.ncbi.nlm.nih.gov/gene/326

Contributors

Pratibha Nair: 15.11.2020
Pratibha Nair: 23.10.2018

Edit History

Pratibha Nair: 15.11.2020
Pratibha Nair: 16.01.2019

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