SNRPE Chromosome 1
Small nuclear ribonucleoprotein polypeptide E
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What This Gene Does
The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Sm spliceosomal proteins
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000182004
Associated Conditions (1)
Hypotrichosis 11
Key Variants
RS587776924
Conflicting classifications of pathogenicity
Hypotrichosis 11, Hypotrichosis 11
Health Risk
RS2546410020
Pathogenic
Hypotrichosis 11, Hypotrichosis 11
Health Risk
RS2546413977
Pathogenic
Hypotrichosis 11, Hypotrichosis 11
Health Risk
RS587776925
Pathogenic
Hypotrichosis 11, Hypotrichosis 11
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587776924 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 11, Hypotrichosis 11 |
| RS2546410020 | Health Risk | Pathogenic | Hypotrichosis 11, Hypotrichosis 11 |
| RS2546413977 | Health Risk | Pathogenic | Hypotrichosis 11, Hypotrichosis 11 |
| RS587776925 | Health Risk | Pathogenic | Hypotrichosis 11, Hypotrichosis 11 |