MPP4 Chromosome 2

MAGUK p55 scaffold protein 4
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000082126
Associated Conditions (1)
7 conditions
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1057519443 Health Risk Pathogenic 7 conditions, 7 conditions
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