LUC7L
Description
The LUC7L (LUC7 like) is a protein-coding gene located on chromosome 16.
LUC7L gene encodes a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex. This protein is essential for 5' splice site selection in splicing.
The protein may bind to RNA through its arginine/serine-rich domain.
LUC7L is also known as LUC7B1, Luc7, SR+89, hLuc7B1.
Associated Diseases
- Griscelli syndrome type 3
- uncombable hair syndrome
- oculocutaneous albinism type 3
- microcephaly-albinism-digital anomalies syndrome
- hepatorenocardiac degenerative fibrosis
- Senior-Boichis syndrome
