Novel enhancer mediates the RPL36A- HNRNPH2 readthrough loci and GLA gene expressions associated with Fabry disease

ABSTRACT: Fabry disease (FD) is a rare genetic condition caused by mutations in the GLA gene, located on the X chromosome in the RPL36-HNRNPH2 readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (α- Gal A). When the enzyme does not function properly due to the mutations, it causes harmful substances called globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to build up in the body's lysosomes. This accumulation can damage the kidneys, heart, eyes, and nervous system. Recent studies have shown that the RPL36A-HNRNPH2 readthrough loci, which include RPL36A and HNRNPH2, as well as the regulatory sequence known as the GLA- HNRNPH2 bidirectional promoter, may also play a role in FD. However, the involvement of enhancer RNAs (eRNAs) in FD is still poorly u

ORGANISM(S): Homo sapiens (human)

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PROVIDER: S-BSST1240 | biostudies-other |

SECONDARY ACCESSION(S): BRIEF RESEARCH REPORT article

REPOSITORIES: biostudies-other