Human DNAH5 blocking peptide

Name: Human DNAH5 blocking peptide
SKU: CDBP1027
Rating: 5 (1 reviews)

Synthetic Human DNAH5 blocking peptide for Apuri, BL, ELISA

COA

SDS

Datasheet

Summary

Product Overview

Blocking/Immunizing peptide for anti-DNAH5 antibody

Target

DNAH5

Nature

Synthetic

Tag/Conjugate

Unconjugated

Application Notes

For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.

Format

Lyophilized powder

Preservative

None

Storage

Shipped at ambient temperature, store at -20°C.

Entrez Gene ID

1767

Antigen 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. [provided by RefSeq, Oct 2009]

Function

ATP binding; ATPase activity; microtubule motor activity;

Synonyms

DNAH5; dynein, axonemal, heavy chain 5; HL1; PCD; CILD3; KTGNR; DNAHC5; dynein heavy chain 5, axonemal; ciliary dynein heavy chain 5; axonemal beta dynein heavy chain 5; dynein, axonemal, heavy polypeptide 5;

Citations

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Documents

pdf COA

pdf SDS

pdf Datasheet

QA & Reviews

Customer Reviews

References

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

JOURNAL OF MEDICAL GENETICS

Authors: Fassad, Mahmoud R.; Patel, Mitali P.; Shoemark, Amelia; Cullup, Thomas; Hayward, Jane; Dixon, Mellisa; Rogers, Andrew, V; Ollosson, Sarah; Jackson, Claire; Goggin, Patricia; Hirst, Robert A.; Rutman, Andrew; Thompson, James; Jenkins, Lucy; Aurora, Paul; Moya, Eduardo; Chetcuti, Philip; O'Callaghan, Chris; Morris-Rosendahl, Deborah J.; Watson, Christopher M.; Wilson, Robert; Carr, Siobhan; Walker, Woolf; Pitno, Andreia; Lopes, Susana; Morsy, Heba; Shoman, Walaa; Pereira, Luisa; Constant, Carolina; Loebinger, Michael R.; Chung, Eddie M. K.; Kenia, Priti; Rumman, Nisreen; Fasseeh, Nader; Lucas, Jane S.; Hogg, Claire; Mitchison, Hannah M.

Abstract

Background Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests. Methods The diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries. Results Most (82%) families had affected individuals with biallelic or hemizygous (75%) or single (7%) pathogenic causal alleles in known PCD genes. Loss-of-function alleles dominate (73% frameshift, stop-gain, splice site), most (58%) being homozygous, even in non-consanguineous families. Although 57% (88) of the total 155 diagnostic disease variants were novel, recurrent mutations and mutated genes were detected. These differed markedly between white European (52% of families carry DNAH5 or DNAH11 mutations), Arab (42% of families carry CCDC39 or CCDC40 mutations) and South Asian (single LRRC6 or CCDC103 mutations carried in 36% of families) patients, revealing a striking genetic stratification according to population of origin in PCD. Genetics facilitated successful diagnosis of 81% of families with normal or inconclusive ultrastructure and 67% missing prior ultrastructure results. Conclusions This study shows the added value of high-throughput targeted NGS in expediting PCD diagnosis. Therefore, there is potential significant patient benefit in wider and/or earlier implementation of genetic screening.

Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene

STEM CELL RESEARCH

Authors: Drick, Nora; Dahlmann, Julia; Sahabian, Anais; Haase, Alexandra; Goehring, Gudrun; Lachmann, Nico; Ringshausen, Felix C.; Welte, Tobias; Martin, Ulrich; Olmer, Ruth

Abstract

Dynein axonemal heavy chain 5 (DNAH5) is part of a microtubule-associated protein complex found within the cilia of the lung. Mutations in the DNAH5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder. We established two human induced pluripotent stem cell (hiPSC) lines generated from a patient with PCD and homozygous mutation in the corresponding DNAH5 gene. These cell lines represent an excellent tool for modeling the ciliary dysfunction in PCD.