RBM14-RBM4

Description

The RBM14-RBM4 (RBM14-RBM4 readthrough) is a protein-coding gene located on chromosome 11.

RBM14 and RBM4 are RNA-binding proteins that play important roles in regulating pre-mRNA splicing. Both proteins are involved in the recognition and binding of specific RNA sequences, influencing splice site selection and the production of various protein isoforms. RBM14 and RBM4 can interact with each other and other splicing factors, suggesting their participation in a complex regulatory network. These proteins are essential for normal cellular function, and mutations in their genes have been associated with various human diseases.

RBM14 and RBM4 are RNA-binding proteins that play a role in the regulation of pre-mRNA splicing. They are both involved in the recognition and binding of specific RNA sequences, and they can influence the choice of splice sites, ultimately affecting the production of different protein isoforms. RBM14 and RBM4 can interact with each other and with other splicing factors, suggesting that they work together in a complex regulatory network. Their roles in splicing are essential for normal cellular function, and mutations in these genes have been implicated in various human diseases.

RBM14-RBM4 is also known as COAZ, PSP2, RBM14, SIP.

Associated Diseases

• hypertriglyceridemia 2
• cholesterol-ester transfer protein deficiency
• thyroid hormone metabolism, abnormal, 2
• sitosterolemia
• homozygous familial hypercholesterolemia
• hypercholesterolemia, autosomal dominant, 3
• hyperlipoproteinemia type V
• major depressive disorder
• hyperlipidemia due to hepatic triglyceride lipase deficiency
• hypercholesterolemia, autosomal dominant, type B
• pancreatic triacylglycerol lipase deficiency
• familial apolipoprotein C-II deficiency
• glycogen storage disease VI
• pantothenate kinase-associated neurodegeneration