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FLASH GENE

Symbol

TYR

contributors: SGE/npt - updated : 15-04-2015

HGNC name	tyrosinase (oculocutaneous albinism IA)
HGNC id	12442

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OCA1 , OCA1B

related resource

Albinism Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       TYR(R402Q) allele, a functionally significant polymorphism associated or not with deletion in exon 8 of the MITF, leading to moderately reduced tyrosinase catalytic activity in Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism

Susceptibility

Variant & Polymorphism SNP	associated to frequent freeckles and sun sensitivity
	ARG402GLN variant is associated with skin color and tanning ability, and squamous cell carcinoma risk (Nan 2009)

Candidate gene
Marker
Therapy target	prenatal molecular diagnosis of OCA (Rosenmann 2009)
	TYR siRNA may provide a novel strategy for the control of cell pigmentation (An 2009)

ANIMAL & CELL MODELS