KIF1B

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the KIF1B gene was identified in a UDN participant with intermittent episodes suggestive of pheochromocytoma, elevated urinary metabolites, testicular pain, and a neuroendocrine tumor

Date of Report

Jan 18, 2024

Full Name

Kinesin Family Member 1B

Location

Chromosome 1p36.22

Function

This gene codes for a motor protein that helps transport mitochondria, and also acts as a tumor suppressor and induces apoptosis (Schlisio et al., 2008)

Database Links

GeneCards: GC01P010210

MedlinePlus Genetics: KIF1B

NCBI Gene: 23095

OMIM: 605995

UniProtKB/Swiss-Prot: O60333

Clinical Significance

A heterozygous, paternally inherited change in this gene was identified in a UDN participant.

Gene KIF1B

Inheritance Pattern Autosomal dominant

Position (hg19) chr1:g.10328292G>T

Transcript NM_015074.3

DNA Change c.691G>T

Protein Change p.Asp231Tyr

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