Reviewed April 2007
What is the official name of the KIF1B gene?
The official name of this gene is “kinesin family member 1B.”
KIF1B is the gene's official symbol. The KIF1B gene is also known by other names, listed below.
What is the normal function of the KIF1B gene?
The KIF1B gene provides instructions for making a protein called kinesin family member 1B, part of the kinesin family of proteins. These proteins are essential for the transport of materials within cells. Kinesin proteins function like freight trains that transport cargo, and their structure is suited for this cargo-carrying function. One part of the protein, called the motor domain, powers the protein and its cargo along a track-like system made from structures called microtubules. Another part of the kinesin protein, which varies among family members, binds to specific materials for transport.
Research suggests that the kinesin family member 1B protein specializes in carrying two types of cargo. In nerve cells, this protein transports small, saclike structures called synaptic vesicles, which contain materials necessary for the transmission of nerve impulses. In other cell types, the kinesin family member 1B protein carries energy-producing structures called mitochondria.
How are changes in the KIF1B gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the KIF1B gene
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One KIF1B gene mutation has been detected in some patients with a form of Charcot-Marie-Tooth disease known as type 2A. The mutation changes one of the protein building blocks (amino acids) in the motor domain of kinesin family member 1B. Specifically, the amino acid glutamine is replaced by the amino acid leucine at protein position 98 (written as Gln98Leu). Although the effect of this mutation is not fully understood, the motor function of the protein and the transport of synaptic vesicles are probably disrupted. Lowered levels of synaptic vesicles at nerve endings could impair the transmission of nerve impulses, causing the symptoms of type 2A Charcot-Marie-Tooth disease.
Where is the KIF1B gene located?
Cytogenetic Location: 1p36.2
Molecular Location on chromosome 1: base pairs 10,193,417 to 10,364,241
The KIF1B gene is located on the short (p) arm of chromosome 1 at position 36.2.
More precisely, the KIF1B gene is located from base pair 10,193,417 to base pair 10,364,241 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KIF1B?
You and your healthcare professional may find the following resources about KIF1B helpful.
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- Gene Tests
- DNA tests ordered by healthcare professionals
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 KIF1B gene or gene products?
- CMT2
- CMT2A
- HMSNII
- KIAA0591
- KIAA1488
- KIF1B_HUMAN
- KLP
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 KIF1B?
acids ;
amino acid ;
cell ;
domain ;
gene ;
leucine ;
microtubule ;
mitochondria ;
motor ;
mutation ;
nerve cell ;
protein ;
symptom ;
synaptic vesicles ;
vesicle
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.