C3orf33
Description
The C3ORF33 (chromosome 3 open reading frame 33) is a protein-coding gene located on chromosome 3.
Isoform 2 of C3ORF33 protein is secreted and potentially involved in regulating gene expression through the MAPK3/MAPK1 pathway. This regulation is likely mediated by an unidentified receptor located on the cell surface.
C3ORF33 is also known as AC3-33.
Associated Diseases
- schizophrenia 15
- isolated asymptomatic elevation of creatine phosphokinase
- Phelan-McDermid syndrome
- pentosuria
- histidinemia
- Potocki-Lupski syndrome
