rs1009668
This is a protein-altering variant in the TMEM63A gene.
▶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 TMEM63A
Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]
View all TMEM63A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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