1. Gene
  2. CTC1 - CST telomere replication complex component 1 Gene

CTC1 - CST telomere replication complex component 1 Gene

Homo sapiens

Also known as CRMCC; AAF132; AAF-132; C17orf68; tmp494178

Gene ID: 80169 | Gene type: protein coding

About CTC1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,224,815-8,248,056 (from NCBI)

This gene has 28 transcripts (splice variants), 181 orthologues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues.

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]

CTC1 Products(2)

mRNA Protein Name
NM_001411067.1 NP_001397996.1 CST complex subunit CTC1 isoform 2
NM_025099.6 NP_079375.3 CST complex subunit CTC1 isoform 1

CTC1 Protein Structure

CTC1

CTC1: CST, telomere maintenance, complex subunit CTC1 (60 - 1201)

  • 0
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  • 1000
  • 1217 a.a.
Protein Preferred Names Protein Names

CST complex subunit CTC1

CST telomere maintenance complex component 1

Related Diseases

Diseases Alias
Cerebroretinal Microangiopathy With Calcifications And Cysts 1

Coats Plus Syndrome

Cerebroretinal Microangiopathy With Calcifications And Cysts

Crmcc

CRMCC1

Microangiopathy, Cerebroretinal, With Calcifications And Cysts

Cerebral Small Vessel Diseases

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Retinal Telangiectasia
Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

Portal Hypertension

Hypertension, Portal

Hypertension Portal

Pht - [Portal Hypertension]

Portal Htn

Glioblastoma Mesenchymal Subtype
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities

X-Linked Dyserythropoietic Anemia

X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia

XLANP

Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities

X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities

Anemia Without Thrombocytopenia, X-Linked

XLAWT

Anemia X-Linked With Variable Neutropenia

Leukodystrophy

Leukodystrophies

Spasticity
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CTC1 VGNC VGNC:71586
Felis catus CTC1 VGNC VGNC:61244
Mus musculus CTC1 MGD MGI:1916214
Rattus norvegicus CTC1 RGD RGD:1563106
Bos taurus CTC1 VGNC VGNC:27787
Canis familiaris CTC1 VGNC VGNC:39689