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XB-GENEPAGE-1007544
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psap
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prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
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(
Nomenclature history )
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Prosaposin
AI Protein Function
:
The psap gene encodes prosaposin, a precursor protein that is cleaved into saposins a, b, c, and d, which are lysosomal proteins facilitating the hydrolysis of sphingolipids. It is expressed in the dev...[+]
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Diseases:
Disease Ontology:
atypical Gaucher's disease due to saposin c deficiency
MIM:
COMBINED SAPOSIN DEFICIENCY; PSAPD
External Links:
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| ???displayGene.expression??? | Development Stages Embryonic Tissues Adult Tissues | |||||||||||
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Symbol legend:
