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 the DDX1 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: DDX1

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 (hg19) chr2:g.15747320C>G & chr2:g.15736850T>C

Transcript NM_004939.2

DNA Change c.839C>G & c.133-8T>C

Protein Change p.Thr280Arg & N/A

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!