Identity
HGNC
LOCATION
4p15.2
LOCUSID
ALIAS
LP,PCH2D,SLA,SLA/LP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51091
MIM: 613009
HGNC: 30605
Ensembl: ENSG00000109618
Variants:
dbSNP: 51091
ClinVar: 51091
TCGA: ENSG00000109618
COSMIC: SEPSECS
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37761892 | 2023 | Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington's Disease Brain Tissue. | 1 |
| 37761892 | 2023 | Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington's Disease Brain Tissue. | 1 |
| 35091508 | 2022 | Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. | 0 |
| 35091508 | 2022 | Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. | 0 |
| 34884733 | 2021 | Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. | 14 |
| 34884733 | 2021 | Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. | 14 |
| 28133863 | 2017 | Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. | 47 |
| 28133863 | 2017 | Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. | 47 |
| 26888482 | 2016 | Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. | 10 |
| 27576344 | 2016 | Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase. | 11 |
| 26888482 | 2016 | Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. | 10 |
| 27576344 | 2016 | Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase. | 11 |
| 26115735 | 2015 | Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. | 23 |
| 26115735 | 2015 | Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. | 23 |
| 25190812 | 2014 | Structural asymmetry of the terminal catalytic complex in selenocysteine synthesis. | 5 |
Citation
Dessen P
SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56393/
