RNF32

Chr 7

ring finger protein 32

Also known as: FKSG33, HSD15, LMBR2

NCBI Gene: 140545 ENSG00000105982 UniProt: Q9H0A6

RNF32 encodes a protein containing two RING finger motifs that functions in protein-protein interactions and may contribute to sperm formation. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures, typically presenting in early childhood. The gene shows high constraint against loss-of-function variants, suggesting it is intolerant to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)