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FLASH GENE

Symbol

PRF1

contributors: mct - updated : 27-06-2012

HGNC name	perforin 1 (pore forming protein)
HGNC id	9360

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HPLH2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function help explain the aberrant proliferation and activation of cytotoxic T cells and may represent genetic risk factors for bone marrow failure constitutional     --over   in SCLE (subacute cutaneous lupus erythematosus) CD4(+) T cells, and demethylation of the perforin promoter region was seen in CD4(+) T cells from patients with SCLE

Susceptibility

to autism spectrum disorder to acquired aplastic anemia to multiple sclerosis

Variant & Polymorphism other	non synonymous mutations associated to acquired aplastic anemia
	A91V (polymorphism resulting in both presynaptic and postsynaptic defects in function) increasing the risk of multiple sclerosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS