KANSL3

Chr 2

KAT8 regulatory NSL complex subunit 3

Also known as: KIAA1310, NSL3, Rcd1

NCBI Gene: 55683 ENSG00000114982 UniProt: Q9P2N6 OMIM: 617742

The KANSL3 protein is a component of the NSL histone acetyltransferase complex that regulates gene transcription in both the nucleus and mitochondria, promotes cilium assembly and microtubule organization, and is essential for spindle assembly during cell division. Mutations cause autosomal dominant developmental disorders affecting multiple systems including neurological development. This gene is highly constrained against loss-of-function variants in the population, indicating that such mutations are likely to cause severe disease.

OMIM ResearchSummary from RefSeq, UniProt

Involved in regulation of mitochondrial transcription. Located in mitochondrion and nucleoplasm. Part of NSL complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted