SEPSECS
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | SEPSECS |
| GeneCards | SEPSECS |
| Diseases | SEPSECS |
| wikipedia | SEPSECS |
| SEPSECS | |
| gopubmed | SEPSECS |
| EVS | SEPSECS |
| HEFalMp | SEPSECS |
| MyGene2 | SEPSECS |
| 23andMe | SEPSECS |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057518887 | 0 | 25,156,851 | |
| rs1553153 | 0 | 25,147,343 | |
| rs267607035 | 9 | 25,152,049 | |
| rs267607036 | 9 | 25,144,799 | |
| rs757504141 | 0 | 25,156,853 | |
| rs773876739 | 9 | 25,123,971 | |
| rs776969714 | 0 | 25,145,129 |
The SEPSECS gene, located on chromosome 4, encodes the O-phosphoseryl-tRNA(Sec) selenium transferase enzyme, also known as Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase.
Recessively inherited mutations in the SEPSECS gene may lead to Pontocerebellar hypoplasia 2D (PCH2D), also known as Progressive cerebellocerebral atrophy (PCCA). Carrier frequencies for these mutations appear highest in the Middle East; for example, around one-in-40 Jews of Moroccan and Iraqi descent are carriers.[PMID 20920667
]
