SELENOI Chromosome 2
Selenoprotein I
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What This Gene Does
The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Selenoproteins
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138018
Associated Conditions (2)
Spastic paraplegia 81
autosomal recessive
Key Variants
RS116494260
Conflicting classifications of pathogenicity
Health Risk
RS1466246912
Pathogenic
Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81
Health Risk
RS1572337800
Pathogenic
Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81
Health Risk
RS2465282305
Pathogenic
Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81
Health Risk
RS933233143
Pathogenic
Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116494260 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1466246912 | Health Risk | Pathogenic | Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81 |
| RS1572337800 | Health Risk | Pathogenic | Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81 |
| RS2465282305 | Health Risk | Pathogenic | Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81 |
| RS933233143 | Health Risk | Pathogenic | Spastic paraplegia 81, autosomal recessive, Spastic paraplegia 81 |