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Glossary Truncated Protein

protein cut short due to genetic mutation

A truncated protein is a protein that is shorter than its normal length due to a genetic mutation or error during protein synthesis. This can happen when a stop codon appears prematurely in the mRNA sequence, causing the translation process to halt before the full protein is made. Truncated proteins often lack essential functional regions, which can lead to diseases or dysfunctional cellular processes.

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research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

24 citations , November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

research Interactions of the Vitamin D Receptor with the Corepressor Hairless

42 citations , July 2007 in “Journal of Biological Chemistry”

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function

5 citations , September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease”

Hairless protein helps control hair growth by regulating vitamin D receptor activity.

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