SDHC - succinate dehydrogenase complex subunit C Gene

Also Known as CYBL; PGL3; QPS1; SDH3; CYB560

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6391

About SDHC

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,314,381-161,375,340 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 68 phenotypes. Ubiquitous expression in kidney (RPKM 80.5), liver (RPKM 66.7) and 25 other tissues.

Summary

This gene encodes one of four nuclear-encoded subunits that comprise Succinate Dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor Other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

SDHC Products (12)

mRNA	Protein	Name
NM_001035511.3	NP_001030588.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor
NM_001035512.3	NP_001030589.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor
NM_001035513.3	NP_001030590.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor
NM_001278172.3	NP_001265101.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor
NM_001407115.1	NP_001394044.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 6 precursor
NM_001407116.1	NP_001394045.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 7 precursor
NM_001407117.1	NP_001394046.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 8 precursor
NM_001407118.1	NP_001394047.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 9 precursor
NM_001407119.1	NP_001394048.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10
NM_001407120.1	NP_001394049.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10
NM_001407121.1	NP_001394050.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 11 precursor
NM_003001.5	NP_002992.1	succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of respiratory chain complex II (succinate dehydrogenase)	IDA IDA: Inferred from direct assay	37098072	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

SDHC Protein Structure

Sdh_cyt

0
100
169 a.a.

Protein Preferred Names	Protein Names
succinate dehydrogenase cytochrome b560 subunit, mitochondrial	cytochrome B large subunit of complex II

SDHC Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P87067	SDHC Antibody(YA6760)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Paragangliomas 3	PGL3 Glomus Tumors, Familial, 3 Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Familial Non-Chromaffin Paragangliomas 3 Glomus Tumors Familial 3 Paragangliomas, Type 3
Paraganglioma And Gastric Stromal Sarcoma	Carney-Stratakis Syndrome Paraganglioma And Gastrointestinal Stromal Tumor Carney Dyad Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma Paraganglioma And Gist Carney-Stratakis Dyad Gist-Paraganglioma Dyad PGGSS Paraganglioma, Gastric Stromal Sarcoma Gastrointestinal Stromal Tumors
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
Hereditary Paraganglioma-Pheochromocytoma Syndromes	Hereditary Pheochromocytoma-Paraganglioma Hereditary Paraganglioma-Pheochromocytoma Familial Pheochromocytoma-Paraganglioma Paragangliomas 2 Paragangliomas 3 Paragangliomas 4 Sdhx-Related Paraganglioma-Pheochromocytoma Familial Paraganglioma Syndrome Familial Paraganglioma-Pheochromocytoma Syndromes Fpgl Fpgl/Pheo Paragangliomas 1 Paraganglioma
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Carney Triad	Gastric Leiomyosarcoma, Pulmonary Chondroma, And Extraadrenal Paraganglioma
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Multiple Endocrine Neoplasia	Men Multiple Endocrine Adenomatosis Multiple Endocrine Neoplasia Syndrome Adenomatosis, Familial Endocrine Endocrine Neoplasia, Multiple Familial Endocrine Adenomatosis Mea Multiple Endocrine Neoplasms Multiple Endocrine Neoplasia Type 1
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Chondroma	Central Chondroma Enchondroma
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Rhabdomyosarcoma
Paragangliomas 1	Carotid Body Tumor Paragangliomata Pgl Chemodectomas Carotid Body Tumors Glomus Jugulare Tumors Carotid Body Paraganglioma PGL1 Cbt1 Glomus Tumor Glomus Tumors Familial 1 Paragangliomas Familial 1 Glomus Jugulare Tumor Paragangliomas, Familial, 1 Glomus Tumors, Familial, 1 Paraganglioma, Carotid Body Paragangliomas, Familial Nonchromaffin, 1 Paragangliomas 1, With Or Without Deafness Cbt Paraganglioma - Glomus Jugulare Pgl 1 Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Chemodectoma Familial Non-Chromaffin Paragangliomas 1 Familial Paragangliomas Non-Chromaffin 1 With Or Without Deafness Paraganglioma Carotid Body Paragangliomas, Type 1 Paraganglioma Extra-Adrenal Paraganglioma Glomus Tympanicum Tumor
Neural Crest Tumor	Neural Crest-Derived Tumors
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Multiple Endocrine Neoplasia, Type Iia	Multiple Endocrine Neoplasia Type 2a Sipple Syndrome Multiple Endocrine Neoplasia Type 2 MEN2A Men2 Ptc Syndrome Multiple Endocrine Neoplasia, Type 2 Multiple Endocrine Neoplasia Iia Men 2a Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Ii Men2 Syndrome Men-2a Syndrome Multiple Neoplasia 2a Multiple Neoplasia Type 2
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Extra-Adrenal Pheochromocytoma	Pheochromocytoma, Extra-Adrenal
Malignant Pheochromocytoma	Pheochromocytoma, Malignant
Adrenal Medulla Cancer	Adrenal Medulla Neoplasm Adrenal Medulla Tumor Malignant Neoplasm Of Adrenal Medulla Malignant Tumor Of The Adrenal Medulla Adrenal Medulla Carcinoma Neoplasm Of Adrenal Medulla
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Adrenal Cortical Adenoma	Adrenocortical Adenoma Adenoma Adrenocortical
Gastric Leiomyosarcoma	Leiomyosarcoma Of Stomach
Lymph Node Disease	Abnormality Of The Lymph Nodes Disorder Of Lymph Node
Endocrine Organ Benign Neoplasm
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
Cowden Syndrome 4	CWS4 Cowden Syndrome, Type 4
Cerebral Angioma	Hemangioma Of Cerebrum Cerebral Hemangioma
Combined Oxidative Phosphorylation Deficiency 5	COXPD5 Hypotonia With Lactic Acidemia And Hyperammonemia Combined Oxidative Phosphorylation Defect Type 5 Combined Oxidative Phosphorylation Deficiency, Type 5
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Corneal Dystrophy, Posterior Polymorphous, 4	PPCD4 Posterior Polymorphous Corneal Dystrophy 4
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Dicrocoeliasis	Disease Due To Dicrocoeliidae Lancet Fluke Infection Dicroceliosis Lancet Fluke Disease Lancet Fluke Infestation
Charcot-Marie-Tooth Disease, Axonal, Type 2dd	CMT2DD Charcot-Marie-Tooth Neuropathy, Type 2dd Charcot-Marie-Tooth Disease Type 2dd Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Atp1a1-Related Cmt2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd Charcot-Marie-Tooth Disease 2dd
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-180107	H36-E4	Inhibitor	98.57%	Unkown
HY-180108	H111-H7	Inhibitor	98.14%	Unkown
HY-178495	SDH-IN-36		/	Unkown
HY-RS12594	SDHC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21430	Sdhc Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27948	Sdhc Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SDHC	VGNC	VGNC:34392
Macaca mulatta	SDHC	VGNC	VGNC:77147
Rattus norvegicus	SDHC	RGD	RGD:1359454
Mus musculus	SDHC	MGD	MGI:1913302
Canis familiaris	SDHC	VGNC	VGNC:45952
Felis catus	SDHC	VGNC	VGNC:64953
Others	SDHC	NCBI