DNAH1 Antibody, Biotin conjugated

Code CSB-PA878961LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) DNAH1 Polyclonal antibody
Uniprot No.
Target Names
DNAH1
Alternative Names
DNAH1 antibody; DHC7 antibody; DNAHC1 antibody; KIAA1410 antibody; Dynein heavy chain 1 antibody; axonemal antibody; Axonemal beta dynein heavy chain 1 antibody; Ciliary dynein heavy chain 1 antibody; Heat shock regulated protein 1 antibody; HSRF-1 antibody; hDHC7 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Dynein heavy chain 1, axonemal protein (2225-2407AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Force generating protein of cilia required for sperm flagellum motility. 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 in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme.
Gene References into Functions
  1. DNAH1 variations were identified in 6 of 287 patients, including 8 heterozygous variations in exons and a splicing site. 4 variations (g.52400764G>C, g.52409336C>T, g.52430999_52431000del, g.52412624C>A) had already been registered in the 1000 Genomes and Exome Aggregation Consortium databases. The other novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic. PMID: 30544445
  2. Pedigree analysis supported the notion that the combination of DNAH1 gene mutations 52430998CCT>C and 52409336C>T and 52428484G>T alone were associated with MMAF. CONCLUSION(S): These DNAH1 gene mutations may be associated with DFS and infertility in the Han population. PMID: 28577616
  3. This mutation was distinct from previously reported DNAH1 mutations associated with MMAF and only affected the East Asian group. Furthermore, the variant DNAH1 protein could not be detected in spermatozoa by Western blot or immunofluorescence staining although DNAH1 mRNA was expressed in the spermatozoa. PMID: 27573432
  4. variation in DNAH1 may play a role in primary ciliary dyskinesia PMID: 25927852
  5. Although DNAH1 is expressed in other ciliated cells, infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum. PMID: 24360805
  6. Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
  7. Dynein motor function is important for regulating Gag and viral RNA egress on endosomal membranes in the cytoplasm to directly impact on viral production. PMID: 19286658
  8. clathrin serving as a regulator of SNX4-dependent transport; upon clathrin release, dynein may bind SNX4 and mediate retrograde movement PMID: 19529763

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Involvement in disease
Spermatogenic failure 18 (SPGF18); Ciliary dyskinesia, primary, 37 (CILD37)
Subcellular Location
Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum.
Protein Families
Dynein heavy chain family
Tissue Specificity
Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain.
Database Links

HGNC: 2940

OMIM: 603332

KEGG: hsa:25981

STRING: 9606.ENSP00000401514

UniGene: Hs.655469

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