Harmonizome 3.0

telomere length, mean leukocyte

body length, human homolog of mouse body length 1

Mean platelet volume QTL6

Mean platelet volume QTL5

Mean platelet volume QTL4

Mean platelet volume QTL3

Mean platelet volume QTL2

Mean platelet volume QTL1

CTS telomere maintenance complex component 1

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]

SDE2 telomere maintenance homolog (S. pombe)

Enables damaged DNA binding activity and snoRNA binding activity. Involved in several processes, including cellular response to UV; gene expression; and mitotic G1 DNA damage checkpoint signaling. Located in several cellular components, including Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

regulator of telomere elongation helicase 1

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

telomere maintenance 2

This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]

regulator of telomere elongation helicase 1 pseudogene 1

telomere repeat binding bouquet formation protein 1

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Mar 2025]

telomere repeat binding bouquet formation protein 2

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Mar 2025]