PRIM1

Chr 12

DNA primase subunit 1

Also known as: PDIL, p49

NCBI Gene: 5557 ENSG00000198056 UniProt: P49642

The protein encoded by this gene is the catalytic subunit of DNA primase, which synthesizes short RNA primers essential for initiating DNA replication during the S phase of the cell cycle. Mutations in PRIM1 cause microcephalic primordial dwarfism with severe insulin resistance and diabetes, following an autosomal recessive inheritance pattern. This gene is highly constrained against loss-of-function variants (pLI near 1.0, LOEUF 0.69), reflecting its essential role in DNA replication.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPrimordial dwarfism-immunodeficiency-lipodystrophy syndrome

Clinical highlights

Gene-disease validity (ClinGen)

primordial dwarfism-immunodeficiency-lipodystrophy syndrome · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.69

LOEUF

LOF

Mechanism· G2P

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