RANBP17 Chromosome 5

RAN binding protein 17
1 variant 1 Health Risk

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What This Gene Does
The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000204764
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS145015947 Health Risk Conflicting classifications of pathogenicity
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