Aliases for HMBOX1 Gene
External Ids for HMBOX1 Gene
Previous GeneCards Identifiers for HMBOX1 Gene
GeneCards Summary for HMBOX1 Gene
HMBOX1 (Homeobox Containing 1) is a Protein Coding gene. Diseases associated with HMBOX1 include Hyperinsulinemic Hypoglycemia, Familial, 4.
UniProtKB/Swiss-Prot Summary for HMBOX1 Gene
Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958).