Telomere Repeat-Binding Bouquet Formation Protein 1

Alternative Names

TERB1
Coiled-Coil Domain-Containing Protein 79
CCDC79

Length

47,386 bases

No. of Exons

No. of isoforms

Protein Name

Telomere repeats-binding bouquet formation protein 1

Molecular Mass

83064 Da

Amino Acid Count

727

Genomic Location

chr16:66,754,640-66,802,025

Gene Map Locus

16q22.1

Description

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to be located in chromosome, telomeric region and nuclear inner membrane. Predicted to colocalize with shelterin complex. [From Alliance of Genome Resources]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001136505.2:c.733G>A	Saudi Arabia	NC_000016.10:g.66778983C>T	Pathogenic	Likely Pathogenic	Spermatogenic Failure 60	NM_001136505.2:c.733G>A; NP_001129977.1:p.Gly245Arg	766256171	1328957

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TERB1 https://www.ncbi.nlm.nih.gov/gene/283847

Contributors

Pratibha Nair: 16.03.2023

Edit History

Pratibha Nair: 16.03.2023

Back to search Result