DYSF

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.

A change in the DYSF gene was identified in a UDN participant with progressive muscle weakness and wasting (read full description).

Date of Report

Oct 18, 2022

Full Name

Dysferlin

Location
Chromosome 2 (2p13.2)
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Function

This protein is involved in calcium-dependent membrane fusion events (Britton et al., 2000). Dysferlin plays an important role in muscle fiber repair (Bashir et al., 1998).

Database Links

GeneCards: GC02P071453

MedlinePlus Genetics: DYSF

NCBI Gene: 8291

OMIM: 603009

UniProtKB/Swiss-Prot: O75923

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene DYSF
Inheritance Pattern Autosomal recessive
Position (hg19) chr2:g.71738937G>A
Transcript NM_003494.3
DNA Change c.343G>A
Protein Change p.Ala115Thr
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