Gene: PSAP

Alternate names for this Gene: GLBA|SAP1|SAP2

Gene Summary: This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: prosaposin

Type of Gene: protein-coding

rs121918104 in PSAP gene and Abnormality of brain morphology PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs11000019 in PSAP gene and Childhood asthma PMID 23829686 2013 Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

rs121918104 in PSAP gene and Combined Saposin Deficiency PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs121918110 in PSAP gene and GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY PMID 17919309 2007 Non-neuronopathic Gaucher disease due to saposin C deficiency.

PMID 2060627 1991 Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

rs121918103 in PSAP gene and Metachromatic Leukodystrophy due to Saposin B Deficiency PMID 2320574 1990 Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

PMID 2302219 1990 Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.

PMID 10682309 2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

PMID 2019586 1991 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

PMID 10196694 1999 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

PMID 30632081 2019 Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

rs121918103 in PSAP gene and Movement Disorders PMID 26831127 2016 Clinical, biochemical and molecular characterization of prosaposin deficiency.

PMID 20484222 2010 Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

PMID 15773042 2005 A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.