Gene: MPP1

Alternate names for this Gene: AAG12|DXS552E|EMP55|MRG1|PEMP

Gene Summary: This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: membrane palmitoylated protein 1

Type of Gene: protein-coding

rs5987027 in MPP1 gene and Mean Corpuscular Volume (result) PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

rs5987027 in MPP1 gene and Red Blood Cell Count measurement PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.