Mouse Anti-ANOS1 Recombinant Antibody (2E8) (CBMAB-A4626-LY)

Name: Mouse Anti-ANOS1 Recombinant Antibody (2E8)
SKU: CBMAB-A4626-LY
Rating: 5 (1 reviews)

See all ANOS1 antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

2E8

Application

WB, ELISA

Immunogen

KAL1 (NP_000207, 548 a.a. ~ 657 a.a) partial recombinant protein with GST tag.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG2a, κ

Clonality

Monoclonal

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

Preservative

None

Concentration

Batch dependent

Purity

> 95% Purity determined by SDS-PAGE.

Storage

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

More Infomation

Target

Full Name

anosmin 1

Introduction

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq]

Entrez Gene ID

3730

UniProt ID

P23352

Alternative Names

ADMLX; HHA; KAL; KALIG-1; KMS

Function

Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.

Biological Process

Axon guidance Source: ProtInc
Cell adhesion Source: ProtInc
Chemotaxis Source: ProtInc
Fibroblast growth factor receptor signaling pathway Source: Reactome
Neuron differentiation Source: GO_Central

Cellular Location

Secreted; Cell membrane. Proteolytic cleavage may release it from the cell surface into the extracellular space.

Involvement in disease

Hypogonadotropic hypogonadism 1 with or without anosmia (HH1): The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in ANOS1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382). A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

PTM

N-glycosylated.
May be proteolytically cleaved at the cell surface and released from the cell surface.

Xia, Y., Guo, H., Ge, H., Feng, K., Qu, X., Wan, F., ... & Yang, J. (2021). A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing. Reproductive Sciences, 1-5.

Noorian, S., Savad, S., Khavandegar, A., & Jamee, M. (2021). A Family with Novel X-linked recessive Homozygous mutation in ANOS-1 gene (c. 628_629 del, p. 1210fs*) in Kallmann syndrome associated unilateral ptosis; A case report and review of the literature. AACE Clinical Case Reports.

Matsushima, S., Shimizu, A., Kondo, M., Asano, H., Ueno, N., Nakayama, H., ... & Kurokawa-Seo, M. (2020). Anosmin-1 activates vascular endothelial growth factor receptor and its related signaling pathway for olfactory bulb angiogenesis. Scientific reports, 10(1), 1-15.

Kanda, M., Suh, Y. S., Park, D. J., Tanaka, C., Ahn, S. H., Kong, S. H., ... & Kodera, Y. (2020). Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study. Gastric Cancer, 23(2), 203-211.

Gach, A., Pinkier, I., Szarras-Czapnik, M., Sakowicz, A., & Jakubowski, L. (2020). Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes. Reproductive Biology and Endocrinology, 18(1), 1-8.

Bae, C. J., Hong, C. S., & Saint-Jeannet, J. P. (2018). Anosmin-1 is essential for neural crest and cranial placodes formation in Xenopus. Biochemical and biophysical research communications, 495(3), 2257-2263.

Nie, M., Xu, H., Chen, R., Mao, J., Wang, X., Xiong, S., ... & Wu, X. (2017). Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations. European journal of endocrinology, 177(4), 389-398.

de Castro, F., Seal, R., Maggi, R., & Group of HGNC Consultants for KAL1 Nomenclature. (2017). ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. Briefings in functional genomics, 16(4), 205-210.

Gonçalves, C. I., Fonseca, F., Borges, T., Cunha, F., & Lemos, M. C. (2017). Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism. Human Reproduction, 32(3), 704-711.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-ANOS1 Recombinant Antibody (2E8)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

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)
Proteogenomics
Other Protocols

Related Products

Mouse Anti-ANOS1 Recombinant Antibody (1C9) (CAT#: CBMAB-A4627-LY)

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.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry