FBXO11

On this page, you will find information about a genetic change that was 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.

A change in this gene was identified in a male, age 4, with global developmental delay (read full description).

Date of Report

May 01, 2019

Full Name

F-box protein 11

Location

Chromosome 2 (2p16.3)

Function

The FBXO11 gene codes for an F-Box protein. This protein constitutes one subunit of a ubiquitin protein ligase complex that functions in the degradation of cellular regulatory proteins (Cenciarelli et al. 1999).

Database Links

GeneCards: FBXO11

NCBI Gene: 80204

OMIM: 607871

UniProtKB/Swiss-Prot: Q86XK2

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Gregor et al. 2018).

Gene FBXO11

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.48035356_48035357del

Transcript NM_001190274.1

DNA Change c.2685_2686delGT

Protein Change p.Ser896Ter

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