FBXO8

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

F-box protein 8

Location
Chromosome 4 (4q34.1)
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Function

F-box proteins, such as FBXO8, are components of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin, F-box proteins), which function in phosphorylation-dependent ubiquitination (Winston et al., 1999).

Database Links

GeneCards: GC04M174236

NCBI Gene: 26269

OMIM: 605649

UniProtKB/Swiss-Prot: Q9NRD0

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 FBXO8
Inheritance Pattern Unknown
Position (hg19) chr4:g.175180959dup
Transcript NM_012180.2
DNA Change c.350dupG
Protein Change p.His118SerfsTer7
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