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Reviewed July 2013
What is the official name of the PAFAH1B1 gene?
The official name of this gene is “platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa).”
PAFAH1B1 is the gene's official symbol. The PAFAH1B1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PAFAH1B1 gene?
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). In the brain, this complex regulates the level of a molecule called platelet activating factor (PAF). PAF is thought to be involved in directing the movement of nerve cells in the brain, 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 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.
How are changes in the PAFAH1B1 gene related to health conditions?
Where is the PAFAH1B1 gene located?
Cytogenetic Location: 17p13.3
Molecular Location on chromosome 17: base pairs 2,593,628 to 2,685,614
The PAFAH1B1 gene is located on the short (p) arm of chromosome 17 at position 13.3.
More precisely, the PAFAH1B1 gene is located from base pair 2,593,628 to base pair 2,685,614 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PAFAH1B1?
You and your healthcare professional may find the following resources about PAFAH1B1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PAFAH1B1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PAFAH1B1?
cell ; cell division ; cerebral cortex ; chromosome ; cytoskeleton ; deletion ; developmental delay ; disability ; epilepsy ; gene ; hydrolase ; molecule ; mosaicism ; neurological ; neuronal migration ; protein ; subcortical ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.