DISEASES

Disease-gene associations mined from literature

Literature associating PSAP and GM1 gangliosidosis

PSAP [ENSP00000378394]

Saposin-B-Val; Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin- C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate. Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12). Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases.

Synonyms:  PSAP,  A0A024QZQ2,  A0A0J9YXB8,  C9JIZ6,  P07602 ...

Linkouts:  STRING  Pharos  UniProt  OMIM