KIF5B

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 20, with musculoskeletal and orthopedic anomalies (read full description).

Date of Report

Nov 16, 2021

Full Name

kinesin family member 5B

Location
Chromosome 10 (10p11.22)
KIF5B-gene.png

Function

This gene encodes a motor protein that plays an important role in organelle transport in many cell types (Navone et al., 1992).

Database Links

GeneCards: GC10M032035

NCBI Gene: 3799

OMIM: 602809

UniProtKB/Swiss-Prot: P33176

Clinical Significance

A change in this gene was identified in a UDN participant. Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Gene KIF5B
Inheritance Pattern Autosomal dominant
Position (hg19) chr10:g.32329340G>A
Transcript NM_004521.2
DNA Change c.260C>T
Protein Change p.Thr87Ile
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