IPO8 importin 8

Gene ID: 10526, updated on 3-Nov-2024
Gene type: protein coding
Also known as: VISS; RANBP8

Summary

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
VISS syndrome MedGen: C5561955OMIM: 619472GeneReviews: Loeys-Dietz Syndrome	See labs

Genomic context

Location:: 12p11.21

Sequence:: Chromosome: 12; NC_000012.12 (30628988..30695869, complement)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for IPO8 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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