Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.

doi:10.1210/clinem/dgab155

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Article

Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.

The Journal of clinical endocrinology and metabolism - 13 Jul 2021

Nicholson Rebekah J, Poss Annelise M, Maschek J Alan, Cox James E, Hopkins Paul N, Hunt Steven C, Playdon Mary C, Holland William L, Summers Scott A

Abstract excerpt

CONTEXT: Genome-wide association studies have identified associations between a common single nucleotide polymorphism (SNP; rs267738) in CERS2, a gene that encodes a (dihydro)ceramide synthase that is involved in the biosynthesis of very-long-chain sphingolipids (eg, C20-C26) and indices of metabolic dysfunction (eg, impaired glucose homeostasis). However, the biological consequences of this mutation on enzyme...

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PMID: 33705551
DOI: 10.1210/clinem/dgab155
PMCID: PMC8277214

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