TERB1 Chromosome 16
Telomere repeat binding bouquet formation protein 1
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What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
"Myb/SANT domain containing|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000249961
Associated Conditions (3)
Spermatogenic failure 60
Non-obstructive azoospermia
Azoospermia
Key Variants
RS1308550551
Pathogenic
Spermatogenic failure 60, Spermatogenic failure 60
Health Risk
RS2145104416
Pathogenic
Non-obstructive azoospermia, Spermatogenic failure 60, Non-obstructive azoospermia
Health Risk
RS766256171
Pathogenic
Azoospermia, Azoospermia
Health Risk
RS963945421
Pathogenic
Spermatogenic failure 60, Spermatogenic failure 60
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1308550551 | Health Risk | Pathogenic | Spermatogenic failure 60, Spermatogenic failure 60 |
| RS2145104416 | Health Risk | Pathogenic | Non-obstructive azoospermia, Spermatogenic failure 60, Non-obstructive azoospermia |
| RS766256171 | Health Risk | Pathogenic | Azoospermia, Azoospermia |
| RS963945421 | Health Risk | Pathogenic | Spermatogenic failure 60, Spermatogenic failure 60 |