Gene Symbol | SNRPE |
Entrez Gene ID | 6635 |
Full Name | small nuclear ribonucleoprotein polypeptide E |
Synonyms | HYPT11,SME,Sm-E,snRNP-E |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypotrichosis 11, 615059 (3) |