RBM48
Description
The RBM48 (RNA binding motif protein 48) is a protein-coding gene located on chromosome 7.
RBM48 is a crucial component of the minor spliceosome, actively participating in the splicing process of U12-type introns within pre-messenger RNA (pre-mRNA).
RBM48 is also known as C7orf64, HSPC304.
Associated Diseases
- nephronophthisis
- ulcer disease
- Zellweger spectrum disorders
- peroxisome biogenesis disorder 1A (Zellweger)
- type 1 diabetes mellitus
- cancer
