SDHAF1 information

SDHAF1
Identifiers
Aliases	SDHAF1, LYRM8, succinate dehydrogenase complex assembly factor 1, MC2DN2
External IDs	OMIM: 612848; MGI: 1915582; HomoloGene: 67970; GeneCards: SDHAF1; OMA:SDHAF1 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	35,996,312 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	30,023,320 bp
RNA expression pattern
	Top expressed in
	beta cell; ; parotid gland; ; mucosa of transverse colon; ; lateral nuclear group of thalamus; ; vena cava; ; pars reticulata; ; middle temporal gyrus; ; external globus pallidus; ; Pars compacta; ; prefrontal cortex;
	Top expressed in
	Ileal epithelium; ; cardiac muscle tissue of left ventricle; ; interventricular septum; ; extraocular muscle; ; plantaris muscle; ; extensor digitorum longus muscle; ; internal carotid artery; ; external carotid artery; ; ascending aorta; ; lacrimal gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrion; mitochondrial matrix;
Biological process	mitochondrial respiratory chain complex II assembly;
	Sources:Amigo / QuickGO
Orthologs
	644096
	68332
	ENSG00000205138
	ENSMUSG00000074211
	A6NFY7
	Q3U276
	NM_001042631
	NM_001033140
	NP_001036096
	NP_001028312
	Wikidata
View/Edit Human	View/Edit Mouse

Succinate dehydrogenase complex assembly factor 1 (SDHAF1), also known as LYR motif-containing protein 8 (LYRM8), is a protein that, in humans, is encoded by the SDHAF1, or LYRM8, gene. SDHAF1 is a chaperone protein involved in the assembly of the succinate dehydrogenase (SDH) complex (complex II). Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy and mitochondrial complex II deficiency.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000205138 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000074211 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Succinate dehydrogenase complex assembly factor 1". Retrieved 2018-07-30.
^ Cite error: The named reference UniProt_A6NFY7 was invoked but never defined (see the help page).
^ Cite error: The named reference Maio_2016 was invoked but never defined (see the help page).

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000205138 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000074211 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Succinate dehydrogenase complex assembly factor 1". Retrieved 2018-07-30.

[UniProt_A6NFY7-6] Cite error: The named reference UniProt_A6NFY7 was invoked but never defined (see the help page).

[Maio_2016-7] Cite error: The named reference Maio_2016 was invoked but never defined (see the help page).

SDHAF1 information

and 6 Related for: SDHAF1 information

SDHAF1

Succinate dehydrogenase

Mitochondrial myopathy

Oncometabolism

Mitochondrial complex II deficiency

List of OMIM disorder codes