Gene id |
644096 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
SDHAF1 Gene UCSC Ensembl |
Aliases |
LYRM8 |
Gene name |
succinate dehydrogenase complex assembly factor 1 |
Alternate names |
succinate dehydrogenase assembly factor 1, mitochondrial, LYR motif containing 8, LYR motif-containing protein 8, SDH assembly factor 1, |
Gene location |
19q13.12 (35995187: 35996311) Exons: 1 NC_000019.10
|
Gene summary(Entrez) |
The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically
|
OMIM |
602805 |
Protein Summary
|
Protein general information
| A6NFY7
Name: Succinate dehydrogenase assembly factor 1, mitochondrial (SDH assembly factor 1) (SDHAF1) (LYR motif containing protein 8)
Length: 115 Mass: 12806
Tissue specificity: Ubiquitously expressed. {ECO
|
Sequence |
MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQLQLLRSGHATAMGAF VRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR
|
Structural information |
|
Other Databases |
GeneCards: SDHAF1  Malacards: SDHAF1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0034553 |
mitochondrial respiratory chain complex II assembl y
|
IBA |
biological process |
GO:0005739 |
mitochondrion
|
IBA |
cellular component |
GO:0005739 |
mitochondrion
|
IDA |
cellular component |
GO:0034553 |
mitochondrial respiratory chain complex II assembl y
|
IMP |
biological process |
GO:0005739 |
mitochondrion
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005759 |
mitochondrial matrix
|
IEA |
cellular component |
|
|
Associated diseases |
References |
Mitochondrial complex II deficiency | KEGG:H02005 |
Mitochondrial complex II deficiency | KEGG:H02005 |
Unexplained infertility | MIK: 25753583 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|