Exosome component 5
id:
exosome-component-5-263-292346
title:
Exosome component 5
text:
Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex. Biallelic pathogenic variation in EXOSC5 causes autosomal recessive cerebellar ataxia, brain abnormalities, and cardiac conduction defects. Individuals with CABAC often have delayed developmental milestones, intellectual disability, cerebellar ataxia, hypotonia, dysarthria, and dysmorphic facies. Cardiac abnormalities including conduction defects, right bundle branch block, sinus node dysfunction, i
brand slug:
wiki
category slug:
encyclopedia
description:
Protein-coding gene in the species Homo sapiens
original url:
https://en.wikipedia.org/wiki/Exosome_component_5
date created:
date modified:
2024-03-20T15:37:02Z
main entity:
{"identifier":"Q18042593","url":"https://www.wikidata.org/entity/Q18042593"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/5/55/Protein_EXOSC5_PDB_2nn6.png","width":971,"height":844}
fields total:
13
integrity:
15