RBMY1J

Chr Y

RNA binding motif protein Y-linked family 1 member J

NCBI Gene: 378951 ENSG00000226941 UniProt: Q15415

The protein functions as an RNA-binding splicing factor required for sperm development during spermatogenesis. Mutations in this Y-linked gene cause male infertility due to azoospermia (absence of sperm), with inheritance following a patrilineal pattern from father to son. The gene is located in the AZFb azoospermia factor region and is part of a gene cluster with multiple paralogs on the Y chromosome.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

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

1.89

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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