CTC1 Antibody – Rabbit Polyclonal

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]

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 replication; DNA-binding

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: nuclear chromosome, telomeric region; nucleus

Molecular Function: protein binding; single-stranded DNA binding; telomeric DNA binding

Biological Process: bone marrow development; multicellular organism growth; negative regulation of telomerase activity; positive regulation of DNA replication; positive regulation of fibroblast proliferation; regulation of G2/M transition of mitotic cell cycle; response to DNA damage stimulus; spleen development; telomere maintenance; thymus development

Disease: Cerebroretinal Microangiopathy With Calcifications And Cysts