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: GC10M060026

Genetics Home Reference: 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 chr10:g.61832047, chr10:g.61835057
Transcript NM_001320874
DNA Change c.8592G>T, c.5582C>T
Protein Change p.Lys2864Asn, p.Thr1861Met
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