protein
Small nuclear ribonucleoprotein-associated protein N
aka snRNP-N
Gene
SNRPN
Organism
Homo sapiens(9606)
Length
240 aa
Mass
24,614 Da
SNRPN (small nuclear ribonucleoprotein-associated protein N) is a 240-amino acid protein encoded by the SNRPN gene (UniProt: P63162). The protein may be involved in tissue-specific alternative RNA processing events, suggesting a role in post-transcriptional gene regulation through interaction with small nuclear ribonucleoproteins.
SNRPN is part of the snRNP complex machinery, which functions broadly in pre-mRNA splicing and other RNA-processing pathways. The protein's specific tissue-dependent functions remain incompletely characterized in the available data.
SNRPN is classified as a syndromic autism-associated gene by SFARI (SFARI Cat S), indicating evidence for association with autism spectrum disorder, particularly in syndromic presentations. This classification reflects its potential relevance to neurodevelopmental disorders, though specific molecular mechanisms linking SNRPN dysfunction to autism phenotypes require further investigation.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
May be involved in tissue-specific alternative RNA processing events
Sources
Last updated 5/6/2026, 5:24:16 AM
