Exosome Component 9

Alternative Names

EXOSC9
Polymyositis/Scleroderma Autoantigen 1
PMSCL1
Polymyositis/Scleroderma Autoantigen, 75-Kd
PMSCL Autoantigen, 75-Kd

Length

15,699 bases

No. of Exons

No. of isoforms

Protein Name

Exosome complex component RRP45

Molecular Mass

48949 Da

Amino Acid Count

439

Genomic Location

chr4:121,801,322-121,817,020

Gene Map Locus

4q27

Description

This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005033.3:c.41T>C	Saudi Arabia; United A...	NC_000004.12:g.121801465T>C	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic	Pontocerebellar Hypoplasia, Type 1D	NG_029848.1:g.5149T>C; NM_005033.3:c.41T>C; NP_005024.2:p.Leu14Pro	139632595	549845

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=exosc9

Contributors

Asha Deepthi: 19.10.2022
Sayeeda Hana: 30.03.2021

Edit History

Asha Deepthi: 19.10.2022
Sayeeda Hana: 30.03.2021

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