ANK3

On this page, you will find information about genetic changes that were 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.

Changes in this gene were identified in a female, age 6, with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor (read full description).

Date of Report

Oct 08, 2019

Full Name

Ankyrin 3

Location

Chromosome 10 (10q21.2)

Function

ANK3 codes for an ankyrin, which is a type of protein believed to link membrane proteins to the cytoskeleton and play key roles in cell motility, activation, proliferation, contact, and maintenance of specialized membrane areas (Mohler, Gramolini, & Vann Bennett, 2002).

Database Links

GeneCards: ANK3

NCBI Gene: 288

OMIM: 600465

UniProtKB/Swiss-Prot: Q12955

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene ANK3

Inheritance Pattern Autosomal recessive

Position (hg19) chr10:g.61832047C>A & g.61835057G>A

Transcript NM_020987.5

DNA Change c.8592G>T & c.5582C>T

Protein Change p.Lys2864Asn & p.Thr1861Met

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!