DTYMK

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 maternally inherited heterozygous change in the DTYMK gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Deoxythymidylate Kinase

Location

Chromosome 2 (2q37.3)

Function

DTYMK gene is responsible for catalyzing the phosphorylation of thymidine monophosphate to thymidine diphosphate, the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in the presence of Mg(2+) (Ostermann et al., 2003; Su & Sclafani, 1997; Vanoevelen et al., 2022; Huang et al., 1994).

Database Links

GeneCards: DTYMK

NCBI Gene: 1841

OMIM: 188345

UniProtKB/Swiss-Prot: P23919

Clinical Significance

A maternally inherited heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene DTYMK

Inheritance Pattern Autosomal recessive

Position (hg19) chr2:g.242625223G>A

Transcript NM_012145.4

DNA Change c.200C>T

Protein Change p.Ser67Leu

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