HELZ2

Chr 20

helicase with zinc finger 2

Also known as: PDIP-1, PRIC285

NCBI Gene: 85441 ENSG00000130589 UniProt: Q9BYK8 OMIM: 611265

The protein functions as an ATP-dependent RNA helicase with 3' to 5' exoribonuclease activity that degrades highly structured RNAs, and serves as a transcriptional coactivator for nuclear receptors including peroxisome proliferator-activated receptors. Mutations cause autosomal recessive neurodevelopmental disorder with early-onset seizures, developmental delay, and intellectual disability. The gene is highly constrained against loss-of-function mutations, indicating intolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.47

LOEUF

Mechanism· predicted