PRIM1 Chromosome 12
DNA primase subunit 1
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What This Gene Does
The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Seckel syndrome
Key Variants
RS1592338256
Likely pathogenic
Health Risk
RS1487483670
Pathogenic
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Health Risk
RS1953871835
Pathogenic
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Health Risk
RS762016916
Pathogenic
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1592338256 | Health Risk | Likely pathogenic | — |
| RS1487483670 | Health Risk | Pathogenic | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome |
| RS1953871835 | Health Risk | Pathogenic | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome |
| RS762016916 | Health Risk | Pathogenic | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome |