NAF1

Chr 4AD

nuclear assembly factor 1 ribonucleoprotein

Also known as: PFBMFT7

NCBI Gene: 92345 ENSG00000145414 UniProt: Q96HR8 OMIM: 617868

The NAF1 protein is required for ribosome biogenesis and assembly of the telomerase holoenzyme complex, binding to telomerase RNA and facilitating its stabilization and localization. Mutations cause pulmonary fibrosis and/or bone marrow failure syndrome with telomere-related features, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, reflecting its essential cellular functions.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables identical protein binding activity and telomerase RNA binding activity. Involved in ribosome biogenesis; telomerase RNA stabilization; and telomerase holoenzyme complex assembly. Acts upstream of or within telomerase RNA localization to Cajal body. Located in cytosol and nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. Implicated in melanoma. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7MIM #620365

Clinical highlights

Gene-disease validity (ClinGen)

pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — NAF1