decreased lysosomal enzyme secretion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description production or release of glycoprotein hydrolytic enzymes is decreased compared to normal (Mammalian Phenotype Ontology, MP_0003173)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003173
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Genes

6 gene mutations causing the decreased lysosomal enzyme secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
HPS4 Hermansky-Pudlak syndrome 4
LYST lysosomal trafficking regulator
Funding