RBM46
Description
The RBM46 (RNA binding motif protein 46) is a protein-coding gene located on chromosome 4.
RBM46 is crucial for both male and female fertility by regulating germ cell development. It ensures the proper progression of meiosis prophase I, and contributes to the switch from mitosis to meiosis in spermatogenesis by forming a complex with MEIOC and YTHDC2. This complex identifies and reduces mitotic transcripts, facilitating a successful meiotic entry. RBM46 is essential for the normal formation of the synaptonemal complex during meiosis. It binds to meiotic cohesin subunit mRNAs containing specific motifs in their 3' untranslated regions (3'UTRs), positively influencing their translation. RBM46 is also required for spermatogonial differentiation in both developing and mature testes.
RBM46 is also known as CT68.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failures 50
- spermatogenic failure, X-linked, 2
- spermatogenic failure 25
- spinocerebellar ataxia type 32
- isochromosomy Yp
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 61
- congenital bilateral absence of vas deferens
- 46,XX testicular disorder of sex development
- spermatogenic failure 63
- spermatogenic failure 48
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- isochromosomy Yq
- spermatogenic failure 20
- spermatogenic failure 72
- spermatogenic failure 44
- spermatogenic failure 27
