rs10838677
This variant is located in the ACP2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndromeAssociationN=71Sophie E. Winder‐Rhodes et al.(2012)· Movement Disorders
Doctoral dissertation investigating genetic mechanisms of lysosomal dysfunction in Parkinson's disease using targeted panel sequencing of 440 lysosomal pathway genes in 51 PD patients and 20 healthy controls. Identified 396 variants exclusively present in PD patients across 208 genes, with variants enriched in lysosomal organization, organic substance transport, and sphingolipid metabolism pathways. Functional studies confirmed that knockdown of GALC, LRBA, and ARSD genes induces lysosomal dysfunction and alpha-synuclein accumulation in cell models.
About ACP2
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
View all ACP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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