Produced in rabbits immunized with E. coli-derived Human AMMECR1 fragment, and purified by antigen affinity chromatography.
Source
Polyclonal Rabbit IgG
Purification
Protein A & Antigen Affinity
Formulation
PBS, pH7.0 with 0.03% Proclin300
Conjugate
Unconjugated
Form
Liquid
Shipping
This antibody is shipped as liquid solution at ambient temperature. Upon receipt, store it immediately at the temperature recommended below.
Storage
This antibody can be stored at 2℃-8℃ for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20℃ to -80℃. Avoid repeated freeze-thaw cycles.
AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis. AMMECR1 is composed of six exons, shows a ubiquitous 6.5-kb transcript, and codes for a protein with a molecular mass of 35.5 kDa. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer.
References
Poreau B, et al. (2019) Xq22.3q23 microdeletion harboring tmem164 and ammecr1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. Am J Med Genet A 179 (4): 650-654.
Moysés-Oliveira M, et al. (2018) Inactivation of ammecr1 is associated with growth, bone, and heart alterations. Hum Mutat 39 (2): 281-291.
Ge H, et al. (2019) Ammecr1 inhibits apoptosis and promotes cell-cycle progression and proliferation of the a549 human lung cancer cell line. Anticancer Res 39 (9): 4637-4642.
title: Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1 authors: Saskia Koene; Jeroen Knijnenburg; ...; Liselotte J. C. Rotteveel journal: American journal of medical genetics. Part A date: 2022-01-27 pmid: 35084080 doi: 10.1002/ajmg.a.62669 pmcid: 9305766 cited_by_count: 3 techniques: Immunohistochemistry; Incubation; Staining bioz_score: 90