DDX1

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia) (read full description).

Date of Report

Mar 04, 2020

Full Name

DEAD-box helicase 1

Location
Chromosome 2 (2p24.3)


Function

DEAD box proteins are considered to be RNA helicases. The DDBX1 gene encodes a protein that can affect translation initiation, splicing, and spliceosome and ribosome assembly (Godbout and Squire, 1993).

Database Links

GeneCards: GC02P015591

NCBI Gene: 1653

OMIM: 601257

UniProtKB/Swiss-Prot: Q92499

Clinical Significance

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 DDX1
Inheritance Pattern Unknown
Position Chr2:15747320; Chr2:15736850
Transcript NM_004939
DNA Change c.839C>G; c.133-8T>C
Protein Change p.T280R; N/A
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