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FLASH GENE

Symbol

PSAP

contributors: mct - updated : 05-07-2017

HGNC name	prosaposin
HGNC id	9498

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SAPC , SAPB , SAPA , SAPD

related resource

Tel-Aviv University Human Genetic Disease Database (Gaucher Disease)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification --over   in cancer of the prostate, in progression constitutional     --low gain of function both PSAP reduction and overexpression lead to significantly elevated extracellular GRN levels tumoral     --over   in breast cancer cell lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Psap deficiency in mice leads to severe Grn trafficking defects and a drastic increase in serum Pgrn levels