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KIF1B gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KIF1B gene

The KIF1B gene provides instructions for making a protein essential for transporting cellular cargo and regulating programmed cell death.

Normal Function

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, provides the power to move the protein and its cargo along a track-like system made from structures called microtubules. Another part of the kinesin protein, which varies among members of this protein family, 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 (neurons), this protein transports small, sac-like 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.

In addition to its transport functions, the kinesin family member 1B protein appears to be involved in programmed cell death (apoptosis). Apoptosis is a common process throughout life that helps the body get rid of cells it does not need.

Health Conditions Related to Genetic Changes

Neuroblastoma

Deletion of a region of chromosome 1 containing the KIF1B gene, designated 1p36, has been identified in some people with neuroblastoma, a type of cancerous tumor composed of immature nerve cells (neuroblasts). 1p36 deletions are somatic mutations, which means they occur during a person's lifetime and are present only in the cells that become cancerous. In addition, several inherited KIF1B gene mutations have been identified in families with a history of neuroblastoma. These mutations change single protein building blocks (amino acids) in the kinesin family member 1B protein. Studies suggest that deletion or mutation of the KIF1B gene may disrupt apoptosis, allowing cells to grow and divide too quickly or in an uncontrolled way. This kind of unregulated cell growth can lead to the formation of tumors.

Nonsyndromic paraganglioma

KIF1B gene mutations have been reported in individuals with a type of paraganglioma called pheochromocytoma. Paragangliomas are noncancerous (benign) tumors of the nervous system. Pheochromocytomas specifically affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. KIF1B gene mutations are associated with nonsyndromic pheochromocytoma, which means the tumors occur without additional features of an inherited syndrome.

The KIF1B gene mutations identified in nonsyndromic pheochromocytoma change single amino acids in the kinesin family member 1B protein. Studies suggest that the mutations may disrupt apoptosis, allowing cells to grow and divide too quickly or in an uncontrolled way and potentially leading to tumor formation.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Other Names for This Gene

  • CMT2
  • CMT2A
  • HMSNII
  • KIAA0591
  • KIAA1488
  • KIF1B_HUMAN
  • KLP

Frequently Asked Questions

The 1p36 deletion involving the KIF1B gene in neuroblastoma is a somatic mutation, meaning it occurs randomly in cells after conception and is not inherited from parents. Because it is not present in the egg or sperm, it is not passed down to children, and siblings of an affected individual do not have an increased risk of developing this specific genetic change. What specific role does the KIF1B protein play in the function of nerve cells?::In neurons, the KIF1B protein acts as a molecular motor that transports synaptic vesicles along microtubules. These vesicles contain neurotransmitters necessary for transmitting nerve impulses, so the proper function of KIF1B is critical for effective communication between nerve cells. Can the KIF1B gene be tested for in routine prenatal screening?::No, routine prenatal screening does not typically test for KIF1B deletions because the associated condition, neuroblastoma, is caused by somatic mutations that occur after birth. Genetic testing for this specific deletion is usually performed on tumor tissue from a diagnosed patient to help with prognosis and classification, rather than on blood samples for general health screening. Does a mutation in the KIF1B gene affect programmed cell death in other parts of the body?::Research suggests that the KIF1B protein is involved in regulating apoptosis, or programmed cell death, in various cell types. While its primary clinical association is with neuroblastoma, its role in apoptosis indicates it may influence how cells are removed during normal development and tissue maintenance, though specific clinical disorders related to this function outside of cancer are not yet well-defined.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.