HDLBP

Chr 2

high density lipoprotein binding protein

The encoded protein binds high density lipoprotein (HDL) to regulate cellular cholesterol levels and also binds RNA to induce heterochromatin formation. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities, typically with childhood onset. This gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol

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

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (2)

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