RNU4ATAC

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

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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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
RNU4ATAC	Autosomal recessive	chr2:g.122288468C>T & g.122288503G>A	NR_023343.1	n.13C>T & n.48G>A	N/A

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