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Gene : CTC1 Homo sapiens

Name  ? CST telomere replication complex component 1 Cytological Location  17p13.1
Brief Description  CST telomere replication complex component 1
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]
  • synonyms:
  • FLJ22170,
  • NM_025099,
  • HGNC:26169,
  • C17orf68,
  • AAF-132,
  • CST telomere maintenance complex component 1,
  • CTC1,
  • tmp494178,
  • AAF132,
  • AL831955,
  • AAF132,
  • conserved telomere maintenance component 1,
  • CRMCC,
  • uc002gkq.5,
  • OTTHUMG00000178443,
  • alpha accessory factor 132,
  • conserved telomere capping protein 1,
  • C17orf68,
  • chromosome 17 open reading frame 68,
  • tmp494178
  • identifiers:
  • 80169,
  • ENSG00000178971,
  • CTC1

Genome feature

Region: gene ? Length: 23265  
Location: 17:8224815-8248079 reverse strand Cyto location: 17p13.1

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1 Diseases

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3740 SNPs

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results