PAFAHIB1 (17p13.3) , PAF asetyylihydrolaasi 1B, neuronimigraatio, Normaalin aivon kehitys

https://ghr.nlm.nih.gov/gene/PAFAH1B1

The PAFAH1B1 gene (also known as LIS1) provides instructions for making a protein that is one part (subunit) of a complex called platelet activating factor acetyl hydrolase 1B (PAFAH1B). This complex regulates the amount of a molecule called platelet activating factor (PAF) in the brain. PAF is thought to be involved in directing the movement (migration) of nerve cells (neurons), a process known as neuronal migration. Proper neuronal migration is essential for normal brain development and function.
Separate from its role in the PAFAH1B complex, the PAFAH1B1 protein is also likely involved in the organization of the cell's structural framework (the cytoskeleton). This protein interacts with microtubules and regulates the activity of a variety of proteins that are involved in their function. Microtubules are rigid, hollow fibers that make up the cytoskeleton, and they are involved in cell division and movement

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
Molecular Location: base pairs 2,593,210 to 2,685,617 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

• LIS1
• LIS1_HUMAN
• LIS2
• lissencephaly 1 protein
• MDCR
• platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
• platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit
• platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)