Product Details

Purity

>85% (SDS-PAGE)

Target Names

DNAH5

Uniprot No.

Q8TE73

Alternative Names

axonemal; Axonemal beta dynein heavy chain 5; Ciliary dynein heavy chain 5; DNAH 5; Dnah5; DNAHC5; DYH5_HUMAN; Dynein heavy chain 5; Dynein heavy chain 5; axonemal; HL1; KIAA1603

Species

Homo sapiens (Human)

Protein Length

Partial

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Gene References into Functions

A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. PMID: 28939216
to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. PMID: 27779714
These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. PMID: 27988889
The mutation of p.Glu2610Gly in DNAH5 is novel. PMID: 24912412
In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5. PMID: 25134640
A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia. PMID: 24150548
DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing. PMID: 20220176
immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization PMID: 16492982
DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons. PMID: 16627867
Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families PMID: 19300264
Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. PMID: 19357118
Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects PMID: 19410201

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Involvement in disease

Ciliary dyskinesia, primary, 3 (CILD3)

Subcellular Location

Cytoplasm, cytoskeleton, cilium axoneme.

Protein Families

Dynein heavy chain family

Tissue Specificity

Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).

Database Links

HGNC: 2950

OMIM: 603335

KEGG: hsa:1767

STRING: 9606.ENSP00000265104

UniGene: Hs.212360

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Recombinant Human Dynein heavy chain 5, axonemal (DNAH5), partial

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