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

The product is antibody recognizes KAL1. The antibody 2E8 immunoassay techniques such as: WB, ELISA.
See all ANOS1 antibodies
Published Data
Fig. 1 Labelling for anosmin-1 (green) was performed on cryosections of normal human skin.
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Fig. 2 Western blot analysis of anosmin-1 secreted into the conditioned media from CHO cells transfected with vector alone or with pCMV6 XL4-KAL1.
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Summary

Host Animal
Mouse
Specificity
Human
Clone
2E8
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

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.

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.

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

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