Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29).

ABSTRACT: The proper regulation of nucleotide pools is essential for all types of cellular functions and depends on de novo nucleotide biosynthesis, salvage, and degradation pathways. Despite the apparent essentiality of these processes, a significant number of rare diseases associated with mutations in genes encoding various enzymes of these pathways have been already identified, and others are likely yet to come. However, knowledge on genetic alterations impacting on nucleoside and nucleobase transporters is still limited. At this moment three gene-encoding nucleoside and nucleobase transporter proteins have been reported to be mutated in humans, SLC29A1, SLC29A3, and SLC28A1, impacting on the expression and function of ENT1, ENT3, and CNT1, respectively. ENT1 alterations dete

SUBMITTER: Pastor-Anglada M 

PROVIDER: S-EPMC9369021 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature