About Site Map Contact Us
|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed November 2009
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 (neuronal migration) in the brain. Proper neuronal migration is essential for normal brain development and function.
The PAFAH1B1 protein promotes neuronal migration by interacting with structures called microtubules, as well as proteins involved in microtubule function. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form a meshwork around the nucleus and, with the aid of other proteins, expand and contract the cytoskeleton to move the neuron.
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 2,496,922 to 2,588,908
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 2,496,922 to base pair 2,588,908 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?
acids ; cell ; cerebral cortex ; chromosome ; cytoskeleton ; deletion ; developmental delay ; gene ; hydrolase ; hypotonia ; microtubule ; molecule ; mosaicism ; muscle tone ; neuron ; nucleus ; protein ; spasticity ; 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 (9 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.