SPRTN Chromosome 1
SprT-like N-terminal domain
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What This Gene Does
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. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Zinc fingers UBZ4 CCHC-type
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000010072
Associated Conditions (1)
Progeroid features-hepatocellular carcinoma predisposition syndrome
Key Variants
RS527236212
Pathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
Health Risk
RS527236213
Pathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
Health Risk
RS587593493
Pathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS527236212 | Health Risk | Pathogenic | Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome |
| RS527236213 | Health Risk | Pathogenic | Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome |
| RS587593493 | Health Risk | Pathogenic | Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome |