Reviewed February 2008
What is the official name of the HS1BP3 gene?
The official name of this gene is “HCLS1 binding protein 3.”
HS1BP3 is the gene's official symbol. The HS1BP3 gene is also known by other names, listed below.
What is the normal function of the HS1BP3 gene?
The HS1BP3 gene provides instructions for making a protein called hematopoietic-specific protein 1 binding protein 3. This protein is believed to help regulate chemical signaling in the brain region involved in coordinating movements (the cerebellum) and in specialized nerve cells in the brain and spinal cord that control the muscles (motor neurons).
How are changes in the HS1BP3 gene related to health conditions?
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essential tremor - associated with the HS1BP3 gene
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Some studies have found a particular variant of the HS1BP3 gene to be associated with essential tremor. In an HS1BP3 variant seen in some families affected by this disorder, the protein building block (amino acid) alanine is replaced by the amino acid glycine at position 265 (written as Ala265Gly or A265G). This variant has also been found in unaffected people, however, and it is unknown what relationship, if any, this genetic change may have to the signs and symptoms of this condition.
Where is the HS1BP3 gene located?
Cytogenetic Location: 2p24.1
Molecular Location on chromosome 2: base pairs 20,681,044 to 20,714,344
The HS1BP3 gene is located on the short (p) arm of chromosome 2 at position 24.1.
More precisely, the HS1BP3 gene is located from base pair 20,681,044 to base pair 20,714,344 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HS1BP3?
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the HS1BP3 gene or gene products?
- ETM2
- FLJ14249
- H1BP3_HUMAN
- HS1-binding protein 3
- HS1-BP3
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 HS1BP3?
acids ;
amino acid ;
cell ;
cerebellum ;
gene ;
glycine ;
hematopoietic ;
motor ;
motor neuron ;
nerve cell ;
neuron ;
protein ;
sign ;
symptom ;
tremor
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.
