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FLASH GENE

Symbol

PLP2

contributors: mct - updated : 23-05-2016

HGNC name	proteolipid protein 2 (colonic epithelium-enriched)
HGNC id	9087

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     --over   directly promotes resistance to ER stressors

Susceptibility

to X-linked mental retardation (XLMR)

Variant & Polymorphism SNP	PLP2-(-113C>A) is sufficient to cause reduced expression and is enriched in a cohort of males with probable XLMR

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Plp2-deficient mice show increased neuronal death to ER stress and hypoxia in vitro and in a neonatal hypoxia-ischemia model