prosaposin
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalKrabbe disease - Saposin A deficiency
BIALLELIC, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
combined PSAP deficiency
Krabbe disease
Parkinson disease
metachromatic leukodystrophy
neurodegenerative disease
Alzheimer disease
lysosomal storage disease
multiple sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mitochondrial carrier homolog 1
Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and multi-pass membrane proteins (By similarity). Does not mediate insertion of beta-barrel transmembrane proteins (By similarity). May play a role in apoptosis (PubMed:12377771)
Curated MONDO disease pages that list PSAP among their top associated genes.
PSAP · P07602
Mean pLDDT
73.8/ 100
Confident
524 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
