NAP1L3

Chr X

nucleosome assembly protein 1 like 3

Also known as: MB20, NPL3

NCBI Gene: 4675 ENSG00000186310 UniProt: Q99457

This gene encodes a histone chaperone that facilitates nucleosome assembly and may contribute to cellular differentiation. Mutations cause X-linked intellectual disability with onset in early childhood. The gene follows X-linked inheritance and is located in a chromosomal region associated with multiple X-linked cognitive disability syndromes.

ResearchSummary from RefSeq, UniProt

This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked cognitive disability syndromes. [provided by RefSeq, Dec 2010]

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

0.90

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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