TBC1D30 regulates proinsulin and insulin secretion and is the target of a genomic association signal for proinsulin.

doi:10.1007/s00125-025-06391-w

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TBC1D30 regulates proinsulin and insulin secretion and is the target of a genomic association signal for proinsulin.

Diabetologia - 1 Jun 2025

Parsons Victoria A, Vadlamudi Swarooparani, Voos Kayleigh M, Rohy Abigail E, Moxley Anne H, Cannon Maren E, Rosen Jonathan D, Mills Christine A, Herring Laura E, Broadaway K Alaine, Lorenzo Damaris N, Mohlke Karen L

Abstract excerpt

AIMS/HYPOTHESIS: Components of the insulin processing and secretion pathways remain incompletely understood. Here, we examined a genome-wide association study (GWAS) signal for plasma proinsulin levels. Lead GWAS variant rs150781447-T encodes an Arg279Cys substitution in TBC1 domain family member 30 (TBC1D30), but no role for this protein in insulin processing or secretion has been established previously. This...

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PMID: 40064677
DOI: 10.1007/s00125-025-06391-w
PMCID: PMC12068983

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TBC1D30

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