SDHAF1 - succinate dehydrogenase complex assembly factor 1 Gene

Also Known as LYRM8; MC2DN2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 644096

About SDHAF1

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,995,188-35,996,312 (from NCBI)

This gene has 1 transcript (splice variant), 73 orthologues, 1 paralogue and is associated with 3 phenotypes.

Summary

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 associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

SDHAF1 Products (1)

mRNA	Protein	Name
NM_001042631.3	NP_001036096.2	succinate dehydrogenase assembly factor 1, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24606901	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex II assembly	IMP IMP: Inferred from mutant phenotype	19465911	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19465911	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SDHAF1 Protein Structure

Complex1_LYR

0
100
115 a.a.

Protein Preferred Names	Protein Names
succinate dehydrogenase assembly factor 1, mitochondrial	LYR motif containing 8

SDHAF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Bait CoIP	26749241
Intra	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Tag CoIP	26749241
Intra	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Tag CoIP	33961781
Intra	SDHAF1	A6NFY7	HSCB	Homo sapiens	Q8IWL3	Anti Bait CoIP	26749241
Intra	SDHAF1	A6NFY7	HSCB	Homo sapiens	Q8IWL3	Anti Tag CoIP	26749241
Intra	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
Intra	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Ii Deficiency, Nuclear Type 2	MC2DN2 Mitochondrial Complex 2 Deficiency, Nuclear Type 2
Mitochondrial Complex Ii Deficiency	Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency Isolated Succinate-Coenzyme Q Reductase Deficiency Isolated Succinate-Coq Reductase Deficiency Isolated Succinate-Ubiquinone Reductase Deficiency Mitochondrial Respiratory Chain Complex Ii Deficiency Complex 2 Mitochondrial Respiratory Chain Deficiency Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Isolated Succinate Dehydrogenase Deficiency Succinate-Coenzyme Q Reductase Deficiency
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	MC1DN2 MC2DN1 Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Mitochondrial Complex I Deficiency, Nuclear Type 2 Mitochondrial Complex 1 Deficiency, Nuclear Type 2 Nuclear Type Mitochondrial Complex I Deficiency 2 Complex 2 Mitochondrial Respiratory Chain Deficiency Complex Ii Mitochondrial Respiratory Chain Deficiency Sdh-Defective Infantile Leukoencephalopathy
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Quadriplegia	Tetraplegia Tetraplegias
Infantile Cerebellar-Retinal Degeneration	ICRD Infantile Cerebellar Retinal Degeneration Degeneration, Cerebellar-Retinal, Infantile
Combined D-2- And L-2-Hydroxyglutaric Aciduria	D,L-2-Hydroxyglutaric Aciduria D2L2AD Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria D,L-2-Hga D,L-2-Hydroxyglutaric Acidemia Combined D,L-2-Hydroxyglutaric Aciduria
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS12591	SDHAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SDHAF1	VGNC	VGNC:64950
Rattus norvegicus	SDHAF1	RGD	RGD:1562079
Mus musculus	SDHAF1	MGD	MGI:1915582
Bos taurus	SDHAF1	VGNC	VGNC:34389
Others	SDHAF1	NCBI