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FLASH GENE

Symbol

AIRE

contributors: mct - updated : 11-07-2017

HGNC name	autoimmune regulator
HGNC id	360

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PGA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreased AIRE expression and global thymic hypofunction in Down syndrome (Trisomy 21) constitutional germinal mutation       could specifically affect human insulin gene expression in thymic epithelial cells through INS-VNTR and subsequently induce either insulin tolerance or autoimmunity constitutional     --low   significantly reduced by 2-fold in Down syndrome thymuses compared with controls

Susceptibility

to vitiligo to rheumatoid arthritis to melanoma

Variant & Polymorphism SNP	Ser278Arg polymorphism not associated with increased risk for alopecia areata, in German population
	strong association between AIRE 7215C and vitiligo
	SNPs rs1055311, rs1800520 and rs1800522 were significantly more frequent in healthy subjects than in melanoma patients

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS