CHKB

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 25 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description). 

Date of Report

Sep 21, 2018

Full Name

choline kinase beta

Location
Chromosome 22q13.33


Function

The CHKB gene codes for a protein that has a key role in phospholipid creation (Aoyama et al. 2004).

Database Links

GeneCards: GC22M050578

NCBI Gene: 1120

OMIM: 612395

UniProtKB/Swiss-Prot: Q9Y259

Clinical Significance

Two 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 CHKB
Inheritance Pattern Autosomal recessive
Position Chr22: 51020982; Chr22:51021060
Transcript N/A; NM_005198
DNA Change c.224+5G>C; c.151C>T
Protein Change extended splice; p.Q51X
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