Human family with sequence similarity 20, member A ELISA Kit | FAM20A elisa kit
Human Protein FAM20A, FAM20A ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Uniprot Description
FAM20A: Defects in FAM20A are the cause of amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). An autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth. Belongs to the FAM20 family.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 17q24.2
Cellular Component: Golgi apparatus; cell
Biological Process: calcium ion homeostasis
Disease: Amelogenesis Imperfecta, Type Ig
Research Articles on FAM20A
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Product Notes
The Human FAM20A fam20a (Catalog #AAA924910) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA924910 ELISA Kit recognizes Human FAM20A. It is sometimes possible for the material contained within the vial of "family with sequence similarity 20, member A, 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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