1. Gene
  2. SDHC - succinate dehydrogenase complex subunit C Gene

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

SDHC Protein Structure

Sdh_cyt

Sdh_cyt: Succinate dehydrogenase/Fumarate reductase transmembrane subunit (48 - 164)

  • 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

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