Guinea Pig Hyccin ELISA Kit | FAM126A elisa kit
Guinea pig Hyccin (FAM126A) ELISA Kit
NCBI and Uniprot Product Information
NCBI 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). [provided by RefSeq, Oct 2008]
Uniprot Description
FAM126A: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5). This disorder is 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. Belongs to the FAM126 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 7p15.3
Cellular Component: cytoplasm; cytosol; plasma membrane
Molecular Function: protein binding; signal transducer activity
Biological Process: myelination; phosphoinositide phosphorylation; signal transduction
Disease: Leukodystrophy, Hypomyelinating, 5
Research Articles on FAM126A
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Product Notes
The Guinea Pig FAM126A fam126a (Catalog #AAA2605282) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2605282 ELISA Kit recognizes Guinea Pig FAM126A. It is sometimes possible for the material contained within the vial of "Hyccin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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