FBXO31 Chromosome 16

F-box protein 31

2 variants 2 Health Risk

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What This Gene Does

This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Gene Info

Gene Group

F-boxes other

Locus Type

gene with protein product

Location

16q24.2

Ensembl

ENSG00000103264

Associated Conditions (4)

Intellectual disability

autosomal recessive 45

Ectopic thyroid

Spastic cerebral palsy

Key Variants

RS587777703

Pathogenic

Intellectual disability, autosomal recessive 45, Intellectual disability

Health Risk

RS2150668444

Pathogenic/Likely pathogenic

Ectopic thyroid, Spastic cerebral palsy, Intellectual disability

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS587777703	Health Risk	Pathogenic	Intellectual disability, autosomal recessive 45, Intellectual disability
RS2150668444	Health Risk	Pathogenic/Likely pathogenic	Ectopic thyroid, Spastic cerebral palsy, Intellectual disability