NUP54 Chromosome 4

Nucleoporin 54

3 variants 3 Health Risk

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What This Gene Does

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Gene Info

Gene Group

Nucleoporins

Locus Type

gene with protein product

Location

4q21.1

Ensembl

ENSG00000138750

Associated Conditions (3)

Dystonia 37

early-onset

with striatal lesions

Key Variants

RS758229208

Pathogenic

Dystonia 37, early-onset, with striatal lesions

Health Risk

RS765028638

Pathogenic

Dystonia 37, early-onset, with striatal lesions

Health Risk

RS776306424

Pathogenic

Dystonia 37, early-onset, with striatal lesions

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS758229208	Health Risk	Pathogenic	Dystonia 37, early-onset, with striatal lesions
RS765028638	Health Risk	Pathogenic	Dystonia 37, early-onset, with striatal lesions
RS776306424	Health Risk	Pathogenic	Dystonia 37, early-onset, with striatal lesions