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FLASH GENE

Symbol

HPCA

contributors: mct - updated : 15-04-2015

HGNC name	hippocalcin
HGNC id	5144

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DYT2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   hippocalcin RNA is diminished by 63p100 in (HD) Huntington disease brain, but diminished hippocalcin expression does not contribute to HD-related neurodegeneration constitutional     --over   dramatically elongated neurites and increased the expression of basic helix-loop-helix transcription factor, that is, NEUROD1 without FGF2 stimulation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Hpca-deficient (Hpca(-/-)) mice display a defect in cAMP response element-binding protein (CREB) activation associated with impaired spatial and associative memory
	Hpca-knockout mice show deficits in tests of spatial and associative memory in the absence of any obvious structural abnormalities within the brain