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GlossaryTruncated 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”

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations, November 2017 in “Scientific reports”

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets

7 citations, June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

research Lymphoid Enhancer-Binding Factor-1 Interacts with the DNA-Binding Domain of the Vitamin D Receptor

37 citations, April 2011 in “Journal of Biological Chemistry”

LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations, June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

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