Identity
HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
LYRM8,MC2DN2
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: 644096
MIM: 612848
HGNC: 33867
Ensembl: ENSG00000205138
Variants:
dbSNP: 644096
ClinVar: 644096
TCGA: ENSG00000205138
COSMIC: SDHAF1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000205138 | ENST00000378887 | A6NFY7 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35078991 | 2022 | Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens. | 4 |
| 35078991 | 2022 | Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens. | 4 |
| 26749241 | 2016 | Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. | 56 |
| 26749241 | 2016 | Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. | 56 |
| 23174333 | 2013 | The role of complex II in disease. | 65 |
| 23174333 | 2013 | The role of complex II in disease. | 65 |
| 22995659 | 2012 | Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. | 29 |
| 22995659 | 2012 | Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. | 29 |
Citation
Dessen P
SDHAF1 (succinate dehydrogenase complex assembly factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-08-01
Online version: http://atlasgeneticsoncology.org/gene/53739/sdhaf1-(succinate-dehydrogenase-complex-assembly-factor-1)
