ATN1

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.

Changes in this gene were identified in a female, age 18 with seizures, regression and brain abnormalities (cortical dysplasia, brain atrophy), diagnosed with Dentatorubral-pallidoluysian atrophy (read full description).

Date of Report

Nov 09, 2020

Full Name

atrophin 1

Location
Chromosome 12 (12p13.31)
ATN1-gene.png

Function
ATN1 codes for a class of conserved transcriptional compressors, and is thought to play a role in nuclear transcription regulation involved in brain and other organ development (Palmer et al., 2019).
Database Links

GeneCards: GC12P008222

MedlinePlus Genetics: ATN1

NCBI Gene: 1822

OMIM: 607462

UniProtKB/Swiss-Prot: P54259

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene ATN1
Inheritance Pattern Autosomal dominant
Position
Transcript
DNA Change Repeat expansion - 65 repeats
Protein Change
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