SDHAF1 (succinate dehydrogenase complex assembly factor 1)

2013-08-01  

Identity

HGNC
SDHAF1
LOCATION
19q13.12
LOCUSID
644096
ALIAS
LYRM8,MC2DN2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 644096
MIM: 612848
HGNC: 33867
Ensembl: ENSG00000205138

Variants:

dbSNP: 644096
ClinVar: 644096
TCGA: ENSG00000205138
COSMIC: SDHAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205138ENST00000378887A6NFY7

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
350789912022Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.4
350789912022Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.4
267492412016Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.56
267492412016Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.56
231743332013The role of complex II in disease.65
231743332013The role of complex II in disease.65
229956592012Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.29
229956592012Leukoencephalopathy 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