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: 84947
MIM: 614725
HGNC: 21061
Ensembl: ENSG00000122335
Variants:
dbSNP: 84947
ClinVar: 84947
TCGA: ENSG00000122335
COSMIC: SERAC1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34751152 | 2022 | Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1. | 3 |
| 35943861 | 2022 | First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene. | 0 |
| 34751152 | 2022 | Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1. | 3 |
| 35943861 | 2022 | First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene. | 0 |
| 30909120 | 2019 | Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. | 3 |
| 30909120 | 2019 | Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. | 3 |
| 28778788 | 2018 | Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. | 5 |
| 28916646 | 2018 | SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. | 12 |
| 28778788 | 2018 | Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. | 5 |
| 28916646 | 2018 | SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. | 12 |
| 29205472 | 2017 | Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. | 20 |
| 29205472 | 2017 | Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. | 20 |
| 27186703 | 2015 | Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. | 3 |
| 27186703 | 2015 | Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. | 3 |
| 23707711 | 2013 | Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. | 18 |
Citation
Dessen P
SERAC1 (serine active site containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73130/serac1-(serine-active-site-containing-1)
