rs80358264
This is a variant in the NPC2 gene that changes a cysteine to an arginine.
▶ClinVar annotation
Niemann-Pick disease, type C (NPC); Niemann-Pick disease, type C2 (NPC2)
View on ClinVar →▶Research that mentions this SNP (1)
▶Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutationsFunctionalKarim Chikh et al.(2005)· Human Mutation
This functional study characterizes naturally occurring missense mutations in the NPC2 gene (associated with Niemann-Pick disease type C). Five missense mutations were analyzed: c.115G>A (p.V39M), c.140G>T (p.C47F), c.199T>C (p.S67P), c.278G>T (p.C93F), and c.295T>C (p.C99R). Three novel mutations were identified: c.133C>T (p.Q45X), c.141C>A (p.C47X), and c.295T>C (p.C99R). The mutations showed distinct functional outcomes: p.V39M retained normal lysosomal localization and function, while p.C47F, p.S67P, p.C93F, and p.C99R produced misfolded proteins that accumulated in the endoplasmic reticulum and failed to correct cholesterol storage in NPC2-deficient fibroblasts.
About NPC2
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
View all NPC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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