RNU4ATAC

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 male, age 4 with Roifman syndrome (read full description).

Date of Report

May 08, 2019

Full Name

RNA, U4atac small nuclear (U12-dependent splicing)

Location

Chromosome 2 (2q14.2)

Function

The RNU4ATAC gene codes for a small nuclear RNA (snRNA) that is part of a larger splicing complex involved in the removal of introns during RNA processing (Hall and Padgett, 1996).

Database Links

GeneCards: RNU4ATAC

NCBI Gene: 100151683

OMIM: 601428

Clinical Significance

Changes in this gene were identified in a UDN participant and other individuals with similar symptoms (Merico et al. 2015).

Gene RNU4ATAC

Inheritance Pattern Autosomal recessive

Position (hg19) chr2:g.122288468C>T & g.122288503G>A

Transcript NR_023343.1

DNA Change n.13C>T & n.48G>A

Protein Change N/A

Contact Us

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