STN1

Chr 10AR

STN1 subunit of CST complex

Also known as: AAF-44, AAF44, CRMCC2, OBFC1, RPA-32, bA541N10.2

NCBI Gene: 79991 ENSG00000107960 UniProt: Q9H668 OMIM: 613128

STN1 encodes a component of the CST complex that promotes DNA replication under stress conditions and is essential for telomere maintenance and length homeostasis. Mutations cause cerebroretinal microangiopathy with calcifications and cysts 2, an autosomal recessive disorder affecting the brain and retinal vasculature. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 1.224), indicating that complete loss of function is likely incompatible with normal development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cerebroretinal microangiopathy with calcifications and cysts 2MIM #617341

Clinical highlights

Gene-disease validity (ClinGen)

cerebroretinal microangiopathy with calcifications and cysts 2 · 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

1.22

LOEUF

LOF

Mechanism· G2P

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GeneReview available — STN1