Anti-FAM126A monoclonal antibody (DCABH-11488) Made to order

Rabbit anti-Human FAM126A monoclonal antibody for WB, ELISA

View other FAM126A antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human FAM126A is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
FAM126A; family with sequence similarity 126, member A; hyccin; down regulated by Ctnnb1; a; DRCTNNB1A
Entrez Gene ID
UniProt ID

Product Background


Gene summary
FAM126A (Family With Sequence Similarity 126 Member A) is a Protein Coding gene. Diseases associated with FAM126A include leukodystrophy, hypomyelinating, 5 and hypomyelination and congenital cataract. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is FAM126B. The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC).
Antigen Description
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. Note=The disease is caused by mutations affecting the gene represented in this entry. The function about FAM126A antigen include signal transducer activity.

Citations


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We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Biancheri, R; Zara, F; et al. Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype. ARCHIVES OF NEUROLOGY 68:1191-1194(2011).
Traverso, M; Assereto, S; et al. Novel FAM126A mutations in hypomyelination and congenital cataract disease. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 439:369-372(2013).

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