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Article

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

Gene - 15 Jun 2007

Monfregola Jlenia, Napolitano Gennaro, Conte Ivan, Cevenini Armando, Migliaccio Carmen, D'Urso Michele, Ursini Matilde Valeria

Abstract excerpt

Carnitine is a molecule with well-documented pleiotropic functions whose biosynthesis involves four catalytic steps. Here, we report a detailed analysis of the expression and transcriptional control of TMLH gene, which codifies for the first enzyme of carnitine biosynthesis. TMLH maps at the extreme end of Xq28, a chromosomal region of high genomic instability. By 5' and 3' RACE, we identified and mapped two...

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PMID: 17408883
DOI: 10.1016/j.gene.2007.02.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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