Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects
| Autor: | Gianluca Caridi, Francesca Lugani, Andrea Angeletti, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
structural changes
QH301-705.5 genetic variants Homozygote Organic Chemistry Serum Albumin Human Exons General Medicine stability: ligand binding Introns Catalysis Computer Science Applications Inorganic Chemistry congenital analbuminaemia Chemistry Mutation Humans Physical and Theoretical Chemistry Biology (General) Molecular Biology pharmacokinetics QD1-999 Hypoalbuminemia Spectroscopy |
| Zdroj: | International Journal of Molecular Sciences, Vol 23, Iss 1159, p 1159 (2022) |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11–3. It is divided by 14 intervening introns into 15 exons, the last of which is untranslated. To date, 74 nucleotide substitutions (mainly missense) have been reported, determining the circulating variants of albumin or pre-albumin. In a heterozygous state, this condition is known as alloalbuminaemia or bisalbuminaemia (OMIM # 103600). The genetic variants are not associated with disease, neither in the heterozygous nor in the homozygous form. Only the variants resulting in familial dysalbuminaemic hyperthyroxinaemia and hypertriiodothyroninaemia are of clinical relevance because affected individuals are at risk of inappropriate treatment or may have adverse drug effects. In 28 other cases, the pathogenic variants (mainly affecting splicing, nonsense, and deletions), mostly in the homozygous form, cause a premature stop in the synthesis of the protein and lead to the condition known as congenital analbuminaemia. In this review, we will summarize the current knowledge of genetic and molecular aspects, functional consequences and potential therapeutic uses of the variants. We will also discuss the molecular defects resulting in congenital analbuminaemia, as well as the biochemical and clinical features of this rare condition |
| Databáze: | OpenAIRE |
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