RBM46

Chr 4

RNA binding motif protein 46

Also known as: CT68

NCBI Gene: 166863 ENSG00000151962 UniProt: Q8TBY0

RBM46 encodes an RNA-binding protein essential for male and female fertility that regulates germ cell development by controlling the mitotic-to-meiotic transition and ensuring proper meiosis prophase I progression. Mutations cause infertility disorders affecting reproductive function, with an autosomal recessive inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.484), indicating some intolerance to complete loss of protein function.

ResearchSummary from RefSeq, UniProt

Predicted to enable mRNA binding activity. Predicted to be involved in several processes, including cell cycle switching, mitotic to meiotic cell cycle; meiotic nuclear division; and spermatid differentiation. Predicted to act upstream of or within mRNA stabilization and trophectodermal cell differentiation. Predicted to be located in cytoplasm. Predicted to be part of apolipoprotein B mRNA editing enzyme complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429