Gene: MPP4

Alternate names for this Gene: ALS2CR5|DLG6

Gene Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1

Description of this Gene: membrane palmitoylated protein 4

Type of Gene: protein-coding

rs62193398 in MPP4 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs7559992 in MPP4 gene and Schizophrenia PMID 28924203 2017 The common variants implicated in microstructural abnormality of first episode and drug-naïve patients with schizophrenia.