1. Gene
  2. SDHD - succinate dehydrogenase complex subunit D Gene

SDHD - succinate dehydrogenase complex subunit D Gene

Homo sapiens

Also known as PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4; MC2DN3

Gene ID: 6392 | Gene type: protein coding

About SDHD

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,086,873-112,095,794 (from NCBI)

This gene has 9 transcripts (splice variants), 229 orthologues and is associated with 62 phenotypes. Ubiquitous expression in kidney (RPKM 95.3), duodenum (RPKM 84.6) and 25 other tissues.

Summary

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

SDHD Products(4)

mRNA Protein Name
NM_001276503.2 NP_001263432.1 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor
NM_001276504.2 NP_001263433.1 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor
NM_001276506.2 NP_001263435.1 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor
NM_003002.4 NP_002993.1 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor

SDHD Protein Structure

CybS

CybS: CybS, succinate dehydrogenase cytochrome B small subunit (53 - 158)

  • 0
  • 100
  • 159 a.a.
Protein Preferred Names Protein Names

succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

succinate dehydrogenase complex subunit D integral membrane protein

Related Diseases

Diseases Alias
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

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

Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Mitochondrial Complex Iii Deficiency Nuclear Type 2

MC3DN2

Mitochondrial Complex Ii Deficiency, Nuclear Type 3

MC2DN3

Mitochondrial Complex 2 Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency, Nuclear 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

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

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

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

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

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

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

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

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Carcinoid Syndrome

Carcinoid Tumor

Malignant Carcinoid Syndrome

Carcinoid Tumor Syndrome

Carcinoid Tumors

Carcinoid Tumor No Icd-O Subtype

Argentaffinoma Syndrome

Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Chondroma

Central Chondroma

Enchondroma

Neurofibromatosis

Neurofibromatoses

Acoustic Neurofibromatosis

Central Neurofibromatosis

Peripheral Neurofibromatosis

Recklinghausen'S Neurofibromatosis

Von Reklinghausen Disease

Neurofibromatosis 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

Sporadic Pheochromocytoma/Secreting Paraganglioma
Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy

Extra-Adrenal Pheochromocytoma

Pheochromocytoma, Extra-Adrenal

Carney Triad

Gastric Leiomyosarcoma, Pulmonary Chondroma, And Extraadrenal Paraganglioma

Gastric Leiomyosarcoma

Leiomyosarcoma Of Stomach

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

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

Lymph Node Disease

Abnormality Of The Lymph Nodes

Disorder Of Lymph Node

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

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

Neural Crest Tumor

Neural Crest-Derived Tumors

Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified

Endocrine Organ Benign Neoplasm
Indeterminate Leprosy

Uncharacteristic Leprosy

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

Neuroendocrine Tumor

Neuroendocrine Neoplasm

Neuroendocrine Tumors

Carcinoma, Neuroendocrine

Quadriplegia

Tetraplegia

Tetraplegias

Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Dermis Tumor

Dermis Tumour

Neoplasm Of Dermis

Tumor Of Dermis

Tumour Of Dermis

Carotid Body Cancer

Cancer Of Carotid Body

Malignant Carotid Body Paraganglioma

Malignant Carotid Body Tumor

Malignant Neoplasm Of Carotid Body

Tuberculoid Leprosy

Smooth Leprosy

Type T Leprosy

Leprosy Tuberculoid

Leprosy, Tuberculoid

Mobitz Type Ii Atrioventricular Block

Mobitz Ii Atrioventricular Block

Mobitz Ii Atrioventricular Block

Borderline Leprosy

Midborderline Leprosy

Borderline Or Dimorphous Leprosy

Leprosy, Borderline

Scrotum Melanoma

Melanoma Of Scrotum

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical

Foster-Kennedy Syndrome

Disorder Of The Optic Nerve

Optic Nerve Diseases

Disease Of Optic Cranial Nerve

Disease Of Optic Nerve

Disease Of Second Cranial Nerve

Disorder Of Optic Cranial Nerve

Disorder Of Second Cranial Nerve

Disorders Of 2nd Nerve

Cerebral Angioma

Hemangioma Of Cerebrum

Cerebral Hemangioma

Horner'S Syndrome

Horner Syndrome

Bernard-Horner Syndrome

Oculosympathetic Palsy

Bernard Horner Syndrome

Cervical Sympathetic Paralysis

Von Passow Syndrome

Cervical Sympathetic Dystrophy

Multiple Endocrine Neoplasia, Type Iib

Multiple Endocrine Neoplasia Type 2b

MEN2B

Wagenmann-Froboese Syndrome

Multiple Endocrine Neoplasia Iib

Mucosal Neuroma Syndrome

Multiple Endocrine Neoplasia, Type 3

Multiple Endocrine Neoplasia, Type 2b

Men Iib

Neuromata, Mucosal, With Endocrine Tumors

Multiple Endocrine Neoplasia, Type Iii, Formerly

Men3, Formerly

Men Type Iib

Men 2b

Multiple Endocrine Neoplasia Type 3

Multiple Neoplasia 2b

Neoplasia, Endocrine, Multiple, Type Iib

Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
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

Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

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

Lepromatous Leprosy

Leprosy, Lepromatous

Type L Leprosy

Leprosy Lepromatous

Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies

Hereditary Renal Cell Carcinoma
Cardiovascular Organ Benign Neoplasm
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase

Thyroid Gland Cancer

Thyroid Gland Carcinoma

Malignant Neoplasm Of Thyroid Gland

Malignant Tumour Of Thyroid Gland

Thyroid Neoplasm

Thyroid Neoplasms

Neoplasm Of Thyroid Gland

Thyroid Gland Neoplasm

Head And Neck Cancer, Thyroid

Neoplasm Of The Thyroid Gland

Cancer Of The Thyroid

Primary Malignant Neoplasm Of Thyroglossal Duct

Malignant Neoplasm Of Thyroglossal Duct

Primary Malignant Neoplasm Of Thyroid Gland

Thyroglossal Duct Cancer

Toxic Goitre Malignant Tumour

Cancerous Goitre

Renal Oncocytoma

Oncocytoma, Renal

Oncocytoma Of Kidney

Renal Epithelial Oncocytic Tumor

Oncocytoma Kidney

Oncocytoma Renal

Kidney Oncocytoma

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

Gastric Liposarcoma

Liposarcoma Of The Stomach

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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
Mus musculus SDHD MGD MGI:1914175
Rattus norvegicus SDHD RGD RGD:735231