RBM46
Chr 4RNA binding motif protein 46
Also known as: CT68
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RBM46 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools