Dynein, Axonemal, Heavy Chain 8

Alternative Names

DNAH8
HDHC9

Length

315,482 bases

No. of Exons

No. of isoforms

Protein Name

Dynein axonemal heavy chain 8

Molecular Mass

514664 Da

Amino Acid Count

4490

Genomic Location

chr6:38,715,311-39,030,792

Gene Map Locus

6p21.2

Description

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001206927.1:c.3289A>G	United Arab Emirates	NC_000006.12:g.38814085A>G	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 1	NG_041805.1:g.103745A>G; NM_001206927.1:c.3289A>G; NP_001193856.1:p.Ile1097Val	147941001	966791
NM_001206927.2:c.5789G>A	United Arab Emirates	NC_000006.12:g.38857573G>A	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 1	NG_041805.1:g.147233G>A; NM_001206927.2:c.5789G>A; NP_001193856.1:p.Arg1930His	758923038	663218

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=dnah8

Contributors

Pratibha Nair: 01.09.2022

Edit History

Pratibha Nair: 01.09.2022

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