ZBTB24

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 2 with an undiagnosed condition (read full description).

Date of Report

Apr 25, 2016

Full Name

Zinc finger and BTB domain containing 24

Location
Chromosome 6 (6q21)
ZBTB24-chr6.png

Function

The ZBTB24 gene codes for a protein that seems to be involved in DNA methylation of juxtacentromeric DNA during B-cell development (de Greef et al., 2011 ).

Database Links

GeneCards: GC06M109462

Genetics Home Reference: ZBTB24 gene

NCBI Gene: 9841

OMIM: 614064

UniProtKB/Swiss-Prot: O43167

Clinical Significance

A change in this gene was identified in a UDN participant. The participant was found to carry a single copy of the following genetic variant; a second variant was not detected, as expected for autosomal recessive inheritance. Research is underway to see if this change is causing symptoms in this participant.

Gene ZBTB24
Inheritance Pattern Autosomal recessive
Position chr6:109802778
Transcript NM_014797.2
DNA Change c.452C>G
Protein Change p.S151C p.Ser151Cys
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