靶标:
SPRTN
产品别名:
C1orf124; DVC1; PRO4323; spartan; SPRTN; SprT-like N-terminal domain; SprT-like N-terminal domain; DNA-dependent metalloprotease SPRTN; DNA damage protein targeting VCP; DNA damage-targeting VCP (p97) adaptor; zinc finger RAD18 domain-containing protein; 1号染色体开放阅读框124;
背景信息:
The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified.