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FLASH GENE

Symbol

PRKAA1

contributors: mct - updated : 07-06-2016

HGNC name	protein kinase, AMP-activated, alpha 1 catalytic subunit
HGNC id	9376

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function PRKAA1 activation, during energy stress, prolongs cell survival by redox regulation constitutional       gain of function activation of PRKAA1 plays a critical role in TARDBP mislocalization and the development of ALS tumoral     --low   is associated with poor survival in melanoma patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual   PRKAA1 signaling pathway plays an important role in maintaining energy balance, and therefore may be a therapeutic target to prevent or delay retinal degeneration neurology neurodegenerative   may be a potential drug target for ALS

ANIMAL & CELL MODELS

prkaa1(-/-) mice manifest splenomegaly and anemia