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
231743332013The role of complex II in disease.40
267492412016Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.23
229956592012Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.0

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