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FLASH GENE

Symbol

PITRM1

contributors: mct - updated : 06-06-2019

HGNC name	pitrilysin metalloproteinase 1
HGNC id	17663

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCAMRP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in brains of Alzheimer disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	hemizygous Pitrm1 +/- mouse displays slowly progressive, multisystem neurological impairment
	Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors