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FLASH GENE

Symbol

GPR143

contributors: mct/npt/pgu - updated : 28-05-2010

HGNC name	G protein-coupled receptor 143
HGNC id	20145

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OA1 , DELXPM , NYS6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   melanoma constitutional       loss of function leading to the formation of macromelanosomes constitutional       loss of function reduces both the basal expression and cAMP-dependent induction of the microphthalmia-associated transcription factor (MITF), the master regulator of melanocyte differentiation, leading to a significant reduction in expression of PMEL, a major melanosomal structural protein

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Oa1-deficient mice display hypopigmentation of the ocular fundus with a reduction in the size of the uncrossed pathway demonstrating a misrouting of the optic fibres at the chiasm (
	Oa1-knock-out mice have abnormality in melanosome distribution both in retinal pigment epithelium and skin melanocytes