DNAH6 - dynein axonemal heavy chain 6 Gene

Homo sapiens

Also known as HL2; HL-2; DNHL1; Dnahc6

Gene ID: 1768 | Gene type: protein coding

About DNAH6

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:84,459,572-84,819,589 (from NCBI)

This gene has 5 transcripts (splice variants), 220 orthologues and 15 paralogues. Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues.

Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and LIGHT chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

DNAH6 Products(1)

mRNA	Protein	Name
NM_001370.2	NP_001361.1	dynein axonemal heavy chain 6

DNAH6 Protein Structure

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
700
1400
2100
2800
3500
4158 a.a.

Protein Preferred Names

Protein Names

dynein axonemal heavy chain 6

axonemal beta dynein heavy chain 6

Related Diseases

Diseases

Alias

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia	SPGF9
Male Infertility Due To Round-Headed Spermatozoa	Globozoospermia, Complete
Globozoospermia, Total	Globozoospermia
Globozoospermia Syndrome	Round-Headed Sperm Syndrome
Globozoospermia Complete	Globozoospermia Total

Spermatogenic Failure 16

SPGF16	Acephalic Spermatozoa Syndrome
Spermatozoa, Acephalic

Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Spermatogenic Failure, Y-Linked, 2

SPGFY2	Spermatogenic Failure, Nonobstructive, Y-Linked
Y-Linked Spermatogenic Failure 2	Azoospermia, Nonobstructive, Y-Linked
Oligozoospermia, Nonobstructive, Y-Linked	Oligospermia, Nonobstructive, Y-Linked
Spermatogenic Arrest, Y-Linked	Nonobstructive Y-Linked Spermatogenic Failure
Spermatogenic Failure Y-Linked 2	Azoospermia Non-Obstructive Y-Linked
Non-Obstructive Azoospermia And Infertility	Oligospermia Non-Obstructive Y-Linked
Oligozoospermia Non-Obstructive Y-Linked	Spermatogenic Arrest Y-Linked
Spermatogenic Failure Nonobstructive Y-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03851	DNAH6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DNAH6	MGD	MGI:107744
Canis familiaris	DNAH6	VGNC	VGNC:40017
Macaca mulatta	DNAH6	VGNC	VGNC:106147
Bos taurus	DNAH6	VGNC	VGNC:102820
Rattus norvegicus	DNAH6	RGD	RGD:621797
Felis catus	DNAH6	VGNC	VGNC:61546

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