NUP155 Chromosome 5

Nucleoporin 155
1 variant 1 Health Risk

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What This Gene Does
Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000113569
Associated Conditions (3)
Atrial fibrillation
familial
15
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS587777339 Health Risk Pathogenic Atrial fibrillation, familial, 15
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