CTC1, Official Symbol CTC1provided by HGNC Official Full Name CST telomere replication complex component 1provided by HGNC Primary source HGNC:HGNC:26169 See related Ensembl:ENSG00000178971 MIM:613129; AllianceGenome:HGNC:26169 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CRMCC; AAF132; AAF-132; C17orf68; tmp494178 Summary 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] Expression Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues See more Orthologs mouse all