NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]
Uniprot Description
C1QTNF5: Defects in C1QTNF5 are a cause of late-onset retinal degeneration (LORD). LORD is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 11q23.3
Cellular Component: collagen
Disease: Late-onset Retinal Degeneration
Research Articles on C1q
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Product Notes
The Monkey C1q c1qtnf5 (Catalog #AAA737260) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA737260 ELISA Kit recognizes Monkey C1q. It is sometimes possible for the material contained within the vial of "Complement 1q, 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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