The terf2 gene encodes a telomeric repeat-binding factor 2 protein which is a transcription factor, specifically a telomere-specific DNA-binding protein containing myb/sant domains. The protein localiz...[+]

The terf2 gene encodes a telomeric repeat-binding factor 2 protein which is a transcription factor, specifically a telomere-specific DNA-binding protein containing myb/sant domains. The protein localizes to the nucleus and binds double-stranded telomeric DNA repeats to protect chromosome ends and regulate telomere length maintenance. Expression is detected in the oocyte, testis, and brain. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD