Exosome component 5

EXOSC5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2NN6
Identifiers
Aliases	EXOSC5, RRP41B, RRP46, Rrp46p, hRrp46p, p12B, Exosome component 5, CABAC
External IDs	OMIM: 606492; MGI: 107889; HomoloGene: 5981; GeneCards: EXOSC5; OMA:EXOSC5 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	41,397,362 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	25,370,793 bp
RNA expression pattern
	Top expressed in
	monocyte; ; gastrocnemius muscle; ; muscle of thigh; ; body of pancreas; ; gonad; ; prefrontal cortex; ; C1 segment; ; right adrenal gland; ; skin of abdomen; ; skin of leg;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; embryo; ; yolk sac; ; embryo; ; morula; ; morula; ; epiblast; ; right kidney;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	3'-5'-exoribonuclease activity; exoribonuclease activity; protein binding; RNA binding;
Cellular component	cytoplasm; cytosol; exosome (RNase complex); nuclear exosome (RNase complex); cytoplasmic exosome (RNase complex); nucleolus; nucleus; nucleoplasm;
Biological process	regulation of mRNA stability; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'; rRNA 3'-end processing; rRNA catabolic process; DNA deamination; nuclear mRNA surveillance; defense response to virus; exonucleolytic catabolism of deadenylated mRNA; U4 snRNA 3'-end processing; polyadenylation-dependent snoRNA 3'-end processing; RNA catabolic process; rRNA processing; RNA phosphodiester bond hydrolysis, exonucleolytic;
	Sources:Amigo / QuickGO
Orthologs
	56915
	27998
	ENSG00000077348
	ENSMUSG00000061286
	Q9NQT4
	Q9CRA8
	NM_020158
	NM_138586
	NP_064543
	NP_613052
	Wikidata
View/Edit Human	View/Edit Mouse

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 (CABAC, MIM 619576). 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, intraventricular conduction delay, atrioventricular block, and/or ventricular tachycardia. Cardiac pacemakers and defibrillators have been needed, and sudden cardiac death has been reported.