Human CST complex subunit CTC1 (C17orf68) ELISA Kit | C17orf68 elisa kit
Human CST complex subunit CTC1 (C17orf68) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Uniprot Description
CTC1: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites. Defects in CTC1 are the cause of cerebroretinal microangiopathy with calcifications and cysts (CRMCC). An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts. Affected individuals manifest a phenotype consistent with Coats plus syndrome or Labrune syndrome. Coats plus syndrome patients have retinal telangiectasia and exudates as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals with Coats syndrome also have hair, skin, and nail changes, as well as anemia. Patients with Labrune syndrome do not have extraneurologic manifestations. Belongs to the CTC1 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; DNA replication
Chromosomal Location of Human Ortholog: 17p13.1
Cellular Component: nuclear chromosome, telomeric region; nucleus
Molecular Function: protein binding; single-stranded DNA binding
Biological Process: spleen development; bone marrow development; positive regulation of fibroblast proliferation; thymus development; multicellular organism growth; regulation of G2/M transition of mitotic cell cycle; response to DNA damage stimulus; telomere maintenance; positive regulation of DNA replication
Disease: Cerebroretinal Microangiopathy With Calcifications And Cysts
Research Articles on C17orf68
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Product Notes
The Human C17orf68 ctc1 (Catalog #AAA7231682) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7231682 ELISA Kit recognizes Human C17orf68. It is sometimes possible for the material contained within the vial of "CST complex subunit CTC1 (C17orf68), 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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