Mouse Anti-NHS Recombinant Antibody (6D9) (CBMAB-N2442-WJ)

This product is a Mouse antibody that recognizes NHS. The antibody 6D9 can be used for immunoassay techniques such as: ELISA, IF, WB.
See all NHS antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

6D9

Antibody Isotype

IgG2a, κ

Application

ELISA, IF, WB

Basic Information

Specificity

Human

Antibody Isotype

IgG2a, κ

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

PBS, pH 7.4

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name

Nance-Horan syndrome (congenital cataracts and dental anomalies)

Introduction

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Entrez Gene ID

4810

UniProt ID

Q6T4R5

Alternative Names

NHS Actin Remodeling Regulator; Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies); Congenital Cataracts And Dental Anomalies Protein; Nance-Horan Syndrome Protein; CTRCT40; SCML1; CXN;

Function

May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.

Biological Process

Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Lens development in camera-type eyeManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Isoform 1
Apical cell membrane
Cell projection, lamellipodium
Cell junction, tight junction
Cell junction, focal adhesion
Colocalizes with the tight junction protein TJP1 in epithelial cells. Localizes to the leading edge of lamellipodia in motile cells.
Isoform 3
Cytoplasm

Involvement in disease

Nance-Horan syndrome (NHS):
Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.
Cataract 40 (CTRCT40):
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

References

Ling, C., Sui, R., Yao, F., Wu, Z., Zhang, X., & Zhang, S. (2019). Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. BMC Medical Genetics, 20(1), 1-7.

Wei, M., Qi, A., Mo, H., Wu, K., Ma, X., & Wang, B. (2019). A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome. Molecular Medicine Reports, 19(5), 4419-4424.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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