ADK

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 UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

Adenosine Kinase

Location

Chromosome 10 (10q22.2)

Function

Encodes adenosine kinase which catalyzes the transfer of phosphate from ATP to ADP (Spychala et al., 1996)

Database Links

GeneCards: ADK

NCBI Gene: 132

OMIM: 102750

UniProtKB/Swiss-Prot: P55263

Clinical Significance

A 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 ADK

Inheritance Pattern Autosomal Recessive

Position (hg19) chr10:g.764300001A>G

Transcript NM_006721.3

DNA Change c.938A>G

Protein Change p.Asn313Ser

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