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FLASH GENE

Symbol

SLC16A8

contributors: mct/npt - updated : 26-03-2020

HGNC name	solute carrier family 16, member 8 (monocarboxylic acid transporter 3)
HGNC id	16270

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     --low   leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current (Daniele 2008) constitutional germinal mutation       associated with severe psychomotor retardation and triiodothyronine T3 levels (Visser 2008)

Susceptibility

to age-related macular degeneration (AMD)

Variant & Polymorphism other	expression level of SLC16A8 was significantly associated with AMD pathology

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS