Armadillo Repeat-Containing Protein 9

Alternative Names

ARMC9
KIAA1868

Length

178,218 bases

No. of Exons

No. of isoforms

Protein Name

LisH domain-containing protein ARMC9

Molecular Mass

91819 Da

Amino Acid Count

818

Genomic Location

chr2:231,198,631-231,376,848

Gene Map Locus

2q37.1

Description

ARMC9 is predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30 [From GeneCards].

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001352754.2:c.51+5G>T	Saudi Arabia	NC_000002.12:g.231206294G>T	Uncertain Significance	Likely Pathogenic	Joubert Syndrome 30	NM_001352754.2:c.51+5G>T	1114167447	427931
NM_025139.6:c.1027C>T	Saudi Arabia	NC_000002.12:g.231262306C>T	Pathogenic			NM_025139.6:c.1027C>T; NP_079415.4:p.Arg343Cys	759799287	427932
NM_025139.6:c.1559C>T	Saudi Arabia	NC_000002.12:g.231282066C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Joubert Syndrome 30	NM_025139.6:c.1559C>T; NP_079415.4:p.Pro520Leu	1114167449	427936

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=armc9

Contributors

Pratibha Nair: 18.12.2023
Sami Bizzari: 13.09.2022

Edit History

Pratibha Nair: 18.12.2023
Sami Bizzari: 13.09.2022

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