Gene: MAPKBP1
Alternate names for this Gene: JNKBP-1|JNKBP1|NPHP20
Gene Summary: This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients.
Gene is located in Chromosome: 15
Location in Chromosome : 15q15.1
Description of this Gene: mitogen-activated protein kinase binding protein 1
Type of Gene: protein-coding