PALS1 Chromosome 14

Protein associated with LIN7 1, MAGUK p55 family member
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing|Crumbs complex components"
Locus Type
gene with protein product
Location
14q23.3
Ensembl
ENSG00000072415
Associated Conditions (5)
Anxiety
Abnormal facial shape
Arachnoid cyst
Cerebral palsy
Intellectual disability
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2085184370 Health Risk Pathogenic Anxiety, Abnormal facial shape, Arachnoid cyst
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