Anti-ELANE (aa 168-267) polyclonal antibody

Name: Anti-ELANE (aa 168-267) polyclonal antibody
SKU: DPAB-DC842
Rating: 5 (1 reviews)

Mouse anti-Human ELANE (aa 168-267) polyclonal antibody for WB, ELISA

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COA

SDS

Datasheet

Summary

Specifications

Species Reactivity

Human

Immunogen

ELA2 (NP_001963, 168 a.a. ~ 267 a.a) partial recombinant protein with GST tag. The sequence is VLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGL YPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH

Conjugate

Unconjugated

Target

Alternative Names

ELANE; elastase, neutrophil expressed; GE; NE; HLE; HNE; ELA2; SCN1; PMN-E; neutrophil elastase; elastase-2; medullasin; PMN elastase; leukocyte elastase; elastase 2, neutrophil; human leukocyte elastase; polymorphonuclear elastase; bone marrow serine pro

Entrez Gene ID

1991

UniProt ID

P08246

Product Background

Antigen Description

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the proteins release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation.

Pathway

Activation of Matrix Metalloproteinases; Collagen degradation; Extracellular matrix organization; Systemic lupus erythematosus

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Documents

pdf COA

pdf SDS

pdf Datasheet

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References

Mutations in the TNFRSF1A, CEBPE and ELANE genes in a Congenital Cyclic Neutropenia Patient: A New Syndrome?

BLOOD

Authors: Skokowa, Julia; Klimenkova, Olga; Klimiankou, Maksim; Kandabarau, Siarhei; Reuter, Marlene; Hagemann, Anna-Lena; Welte, Karl

Abstract

Description of an ELANE mutation in a Girl with Severe Congenital Noutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

JOURNAL OF PEDIATRIC GENETICS

Authors: Gogou, Maria; Damianidou, Labrini; Papageorgiou, Theodotis; Tragiannidis, Athanasios; Haidopoulou, Katerina; Giannopoulos, Andreas; Hatzipantelis, Emmanuel

Abstract

We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously described in the literature at the exon coding level. Given the autosomal dominant inheritance and the location of the mutation within a "hotspot," this mutation was considered as clinically relevant. ELANE should be screened in patients with congenital neutropenia of no obvious etiology. A detailed medical history and clinical evaluation can prevent unnecessary investigations allowing for a targeted diagnostic strategy.