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Mouse Anti-IGSF1 Recombinant Antibody (4C7) (CBMAB-A4304-LY)

The product is antibody recognizes IGSF1. The antibody 4C7 immunoassay techniques such as: WB, ELISA.
See all IGSF1 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Rat
Clone
4C7
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
IGSF1 (NP_001546, 220 a.a. ~ 310 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human, Rat
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
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
immunoglobulin superfamily, member 1
Introduction
Members of the immunoglobulin (Ig) superfamily (see MIM 147100), which includes IGSF1, have a variety of functions, but all appear to play a role in cell recognition and the regulation of cell behavior.[supplied by OMIM
Entrez Gene ID
Human3547
Rat302822
UniProt ID
HumanQ8N6C5
RatQ925N6
Alternative Names
IGCD1; IGDC1; INHBP; KIAA0364; MGC75490; PGSF2
Function
Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity).

Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.
Biological Process
Negative regulation of activin receptor signaling pathway Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB
Cellular Location
Isoform 1&2: Membrane
Isoform 3: Secreted
Involvement in disease
Hypothyroidism, central, and testicular enlargement (CHTE):
A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.
Topology
Extracellular: 29-518
Helical: 519-539
Cytoplasmic: 540-559
Helical: 560-580
Extracellular: 581-1336

Nikolaou, M., Vasilakis, I. A., Marinakis, N. M., Tilemis, F. N., Zellos, A., Lykopoulou, E., ... & Kanaka-Gantenbein, C. (2023). Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome. Hormones, 1-6.

Fourneaux, R., Reynaud, R., Mougel, G., Castets, S., Bretones, P., Dauriat, B., ... & Saveanu, A. (2022). IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. European Journal of Endocrinology, 187(6), 787-795.

Elizabeth, M. S., Hokken-Koelega, A., Visser, J. A., Joustra, S. D., & de Graaff, L. C. (2022). Case report: A detailed phenotypic description of patients and relatives with combined central hypothyroidism and growth hormone deficiency carrying IGSF1 mutations. Genes, 13(4), 623.

Brûlé, E., Silander, T. L., Wang, Y., Zhou, X., Bak, B., Groeneweg, S., & Bernard, D. J. (2022). IGSF1 deficiency leads to reduced TSH production independent of alterations in thyroid hormone action in male mice. Endocrinology, 163(8), bqac092.

Brûlé, E., Heinen, C. A., Smith, C. L., Schang, G., Li, Y., Zhou, X., ... & Bernard, D. J. (2021). IGSF1 does not regulate spermatogenesis or modify FSH synthesis in response to inhibins or activins. Journal of the Endocrine Society, 5(4), bvab023.

Bernard, D. J., Smith, C. L., & Brûlé, E. (2020). A tale of two proteins: betaglycan, IGSF1, and the continuing search for the inhibin B receptor. Trends in Endocrinology & Metabolism, 31(1), 37-45.

Joustra, S. D., Roelfsema, F., van Trotsenburg, A. P., Schneider, H. J., Kosilek, R. P., Kroon, H. M., ... & Schoenmakers, N. (2020). IGSF1 deficiency results in human and murine somatotrope neurosecretory hyperfunction. The Journal of Clinical Endocrinology & Metabolism, 105(3), e70-e84.

Guan, Y., Wang, Y., Bhandari, A., Xia, E., & Wang, O. (2019). IGSF1: A novel oncogene regulates the thyroid cancer progression. Cell Biochemistry and Function, 37(7), 516-524.

Roche, E. F., McGowan, A., Koulouri, O., Turgeon, M. O., Nicholas, A. K., Heffernan, E., ... & Schoenmakers, N. (2018). A novel IGSF 1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF 1 deficiency syndrome. Clinical Endocrinology, 89(6), 813-823.

Bernard, D. J., Brûlé, E., Smith, C. L., Joustra, S. D., & Wit, J. M. (2018). From consternation to revelation: discovery of a role for IGSF1 in pituitary control of thyroid function. Journal of the Endocrine Society, 2(3), 220-231.

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

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