TAOK1

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.

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A change in the TAOK1 gene was identified in a UDN participant with very low blood sugar (hypoglycemia), developmental delay, and birth defects (tetralogy of Fallot, Chiari I malformation, tethered cord) (read full description).

Date of Report

Oct 19, 2022

Full Name

TAO kinase 1

Location

Chromosome 17 (17q11.2)

Function

The TAOK1 gene plays a role in p38/MAPK14 stress-activated MAPK cascade and DNA damage response and regulation of cytoskeleton stability (van Woerden et al., 2021).

Database Links

GeneCards: TAOK1

NCBI Gene: 57551

OMIM: 610266

UniProtKB/Swiss-Prot: Q7L7X3

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene TAOK1

Inheritance Pattern Unknown

Position (hg19) chr17:24128508_ 25231047del

Transcript N/A

DNA Change ~1.181Mbp deletion

Protein Change N/A

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