SDHC - succinate dehydrogenase complex subunit C Gene

Homo sapiens

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

Gene ID: 6391 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12594	SDHC Human Pre-designed siRNA Set A	Pre-designed Sets	/	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