KIF1B

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.

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.

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