SNUPN Chromosome 15

Snurportin 1
1 variant 1 Health Risk

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What This Gene Does
The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
SNUPN deficiency muscular dystrophy
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1004380299 Health Risk Conflicting classifications of pathogenicity SNUPN deficiency muscular dystrophy, SNUPN deficiency muscular dystrophy
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