PNN
Description
The PNN (pinin, desmosome associated protein) is a protein-coding gene located on chromosome 14.
PNN can refer to the human gene PNN, which encodes the Pinin protein.
PNN is a transcriptional activator that binds to the E-box 1 core sequence of the E-cadherin promoter gene. It can reverse CTBP1-mediated transcription repression. PNN is also an auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC), which is deposited at splice junctions on mRNAs. The EJC is a dynamic structure that plays a role in mRNA metabolism and alternative pre-mRNA splicing. PNN associates with spliced mRNA upstream of the 5'-splice sites and is part of the PSAP complex, which binds RNA in a sequence-independent manner. PNN is involved in the establishment and maintenance of epithelial cell-cell adhesion and is a potential tumor suppressor for renal cell carcinoma.
PNN is also known as DRS, DRSP, SDK3, memA.
Associated Diseases
- cancer
- autosomal recessive spondylocostal dysostosis
- heart defects-limb shortening syndrome
- congenital absence of upper arm and forearm with hand present
- nemaline myopathy 9
- Ulbright-Hodes syndrome
- Klippel-Feil syndrome 2, autosomal recessive
- chromosome 22q11.2 deletion syndrome, distal
- dysmorphism-conductive hearing loss-heart defect syndrome
- primary intestinal lymphangiectasia
- cerebrocostomandibular syndrome
