TOR1AIP1

On this page, you will find information about genetic changes that were 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.

Date of Report

Apr 05, 2018

Full Name

Torsin 1A interacting protein 1

Location
Chromosome 1 (1q25.2)


Function

The TOR1AIP1 gene codes for a nuclear membrane protein (Kayman-Kurekci et al., 2014).

Database Links

GeneCards: GC01P179851

Genetics Home Reference: TOR1AIP1 gene

NCBI Gene: 26092

OMIM: 614512

UniProtKB/Swiss-Prot: Q5JTV8

Clinical Significance

Changes in the TOR1AIP1 gene were identified in a UDN participant with muscular dystrophy, limb-girdle, type 2Y. 

 

Gene TOR1AIP1
Inheritance Pattern Autosomal recessive
Position chr1:179887049 & chr1:179858444
Transcript NM_015602
DNA Change c.1427C>T & c.554-4G>A
Protein Change p.Ala476Val & N/A
Contact Us

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