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FLASH GENE

Symbol

PDE6C

contributors: mct/npt - updated : 14-12-2022

HGNC name	phosphodiesterase 6C, cGMP-specific, cone, alpha prime
HGNC id	8787

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RCD7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

spontaneous mouse mutant cpfl1, featuring a lack of cone function and rapid cone photoreceptor degeneration, represents a homologous mouse model for PDE6C associated achromatopsia (Chang 2009)