DHX32

Chr 10

DEAH-box helicase 32 (putative)

Also known as: DDX32, DHLP1

NCBI Gene: 55760 ENSG00000089876 UniProt: Q7L7V1

The protein is a DEAD box RNA helicase involved in cellular processes that alter RNA secondary structure including translation initiation, nuclear and mitochondrial splicing, and ribosome assembly. Mutations in DHX32 cause autosomal recessive neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities. This gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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