LOC100130264
Loc100130264
Description
LOC100130264 is a gene located on chromosome 19. The protein encoded by this gene is a member of the phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) family. PI3Ks are enzymes that phosphorylate the 3' position of the inositol ring of phosphatidylinositol-4,5-bisphosphate (PIP2). This phosphorylation event leads to the production of phosphatidylinositol-3,4,5-trisphosphate (PIP3), which is a key regulator of cell growth, proliferation, differentiation, and survival.
Associated Diseases
Mutations in LOC100130264 have been associated with a number of diseases, including:
- Rett syndrome: Rett syndrome is a neurodevelopmental disorder that primarily affects girls. Symptoms of Rett syndrome include intellectual disability, autism, seizures, and motor problems.
- Autism spectrum disorder (ASD): ASD is a range of developmental disorders that are characterized by social and communication difficulties.
- Microcephaly: Microcephaly is a condition in which the head is unusually small.
- Intellectual disability: Intellectual disability is a condition characterized by significant limitations in intellectual functioning.
Did you Know ?
- Mutations in LOC100130264 are found in approximately 1% of individuals with Rett syndrome.
