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vps13c encodes a member of the vacuolar protein sorting-associated 13 gene family.
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The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved.
This study found that rs2414739 (VPS13C) is associated with Parkinson disease in IRAN population.
We describe truncating mutations in VPS13C associated with early-onset parkinsonism with rapid progression and widely distributed Lewy bodies.
no detectable effect (with an OR >2.1) of the variants in GCKR (show GCKR Antibodies), GIPR (show GIPR Antibodies), ADCY5 (show ADCY5 Antibodies) and VPS13C on the response to sulfonylurea treatment, indicating that these variants are not significantly contributing to the risk of SH in patients with T2D
The role of four loci (ADCY5 (show ADCY5 Antibodies), GIPR (show GIPR Antibodies), GCKR (show GCKR Antibodies) and VPS13C) in early impairment of glucose and insulin (show INS Antibodies) metabolism in children, was investigated.
The diabetogenic VPS13C/C2CD4A/C2CD4B rs7172432 A allele associates with glucose-stimulated insulin response in non-diabetic individuals from the general population, suggesting an impaired beta cell function as an intermediary diabetes-related trait.
Our findings provide basic information on chorein in vivo and may contribute to taking the first step toward understanding molecular pathogenesis of ChAc.
VPS13C cDNA sequences and brain-specific (show CALY Antibodies) variants of VPS13C were identified.
This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants.
vacuolar protein sorting-associated protein 13C
, vacuolar protein sorting 13C protein
, Vps13c 5' variant VI
, vps13c 5' variant II
, vps13c 5' variant III