Dynein, Axonemal, Heavy Chain 5

Alternative Names

DNAH5
HL1

Length

321,502 bases

No. of Exons

No. of isoforms

Protein Name

Dynein heavy chain 5, axonemal

Molecular Mass

529021 Da

Amino Acid Count

4624

Genomic Location

chr5:13,690,327-14,011,828

Gene Map Locus

5p15.2

Description

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001369.2:c.12704A>G	Saudi Arabia	NC_000005.10:g.13717316T>C		Likely Pathogenic	Ciliary Dyskinesia, Primary, 3	NG_013081.2:g.232165A>G; NM_001369.2:c.12704A>G; NP_001360.1:p.Lys4235Arg
NM_001369.2:c.12709G>T	United Arab Emirates	NC_000005.10:g.13716687C>A	Likely Benign, Uncertain Significance	Uncertain Significance		NG_013081.2:g.232794G>T; NM_001369.2:c.12709G>T; NP_001360.1:p.Val4237Phe	138045391	454739
NM_001369.2:c.2821G>A	United Arab Emirates	NC_000005.10:g.13885151C>T		Likely Benign		NG_013081.2:g.64330G>A; NM_001369.2:c.2821G>A; NP_001360.1:p.Val941Ile	370080157	1629728
NM_001369.2:c.4807C>A	United Arab Emirates	NC_000005.10:g.13859595G>T	Benign, Likely Benign	Likely Pathogenic	Ciliary Dyskinesia, Primary, 3	NG_013081.2:g.89886C>A; NM_001369.2:c.4807C>A; NP_001360.1:p.Pro1603Thr	369137751	525557
NM_001369.2:c.5503C>T	United Arab Emirates	NC_000005.10:g.13841112G>A	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic, Uncertain Significance	Ciliary Dyskinesia, Primary, 3	NG_013081.2:g.108369C>T; NM_001369.2:c.5503C>T; NP_001360.1:p.Gln1835Ter	761622153	372356
NM_001369.2:c.5563dup	Lebanon	NC_000005.10:g.13841058dup	Pathogenic	Pathogenic	Ciliary Dyskinesia, Primary, 3	NG_013081.1:g.108429dup; NM_001369.2:c.5563dup; NP_001360.1:p.Ile1855AsnfsTer6	752925056	407241
NM_001369.2:c.8765G>A	United Arab Emirates	NC_000005.10:g.13786234C>T	Uncertain Significance			NG_013081.2:g.163247G>A; NM_001369.2:c.8765G>A; NP_001360.1:p.Arg2922His	148539877	351049

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External Links

https://medlineplus.gov/genetics/gene/dnah5/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=dnah5

Contributors

Pratibha Nair: 07.03.2023
Pratibha Nair: 14.02.2022
Pratibha Nair: 26.04.2021

Edit History

Pratibha Nair: 07.03.2023
Pratibha Nair: 14.02.2022
Pratibha Nair: 26.04.2021
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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