Metazoan complexes |
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Details of SDHC gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SDHC | CYB560,SDH3 | Q99643 | C560_HUMAN | 6391 | ENSG00000143252 | Succinate dehydrogenase cytochrome b560 subunit, mitochondrial | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Paragangliomas 3 (PGL3) [MIM:605373]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. Note=The disease is caused by mutations affecting the gene represented in this entry. | 605373 | Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in this entry. | 606864 |
Phenotypes
Abdominal symptom, Abnormal appendicular skeleton morphology, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal hand morphology, Abnormality of adrenal morphology, Abnormality of cardiovascular system physiology, Abnormality of circulating catecholamine level, Abnormality of circulating hormone level, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the adrenal glands, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cranial nerves, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the esophagus, Abnormality of the gastrointestinal tract, Abnormality of the hand, Abnormality of the integument, Abnormality of the larynx, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the sweat gland, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vocal cords, Abnormality of the voice, Adrenal pheochromocytoma, Adult onset, Age of onset, All, Anxiety, Anxiety (with pheochromocytoma), Arrhythmia, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Constipation, Cranial nerve paralysis, Dermatological manifestations of systemic disorders, Diaphoresis, Diaphoresis (with pheochromocytoma), Dysphagia, Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Fibroma, Gastrointestinal obstruction, Generalized abnormality of skin, Glomus jugular tumor, Headache, Headache (with pheochromocytoma), Hearing abnormality, Hoarse voice, Hoarse voice (caused by tumor impingement), Hyperpigmentation of the skin, Hypertension, Hypertension associated with pheochromocytoma, Intestinal obstruction, Large hands, Loss of voice, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the adrenal gland, Neoplasm of the adrenal medulla, Neoplasm of the endocrine system, Neoplasm of the nervous system, Neoplasm of the peripheral nervous system, Neoplasm of the skin, Neuroendocrine neoplasm, Neurofibromas, Onset, Onset and clinical course, Palpitations, Palpitations (with pheochromocytoma), Paraganglioma, Paraganglioma of head and neck, Paraganglioma-related cranial nerve palsy, Phenotypic abnormality, Pheochromocytoma, Pulsatile tinnitus, Pulsatile tinnitus (tympanic paraganglioma), Rhythm disturbances associated with pheochromocytoma, Tachycardia, Tachycardia (with pheochromocytoma), Tinnitus, Urticaria, Vascular skin abnormality, Vocal cord paralysis, Vocal cord paralysis (caused by tumor impingement), Vocal cord paresis.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Sdhc | SdhC | mev-1 | Sp-Sdhc |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
SDHB | SDHC | 0.826231225 | SDHB | SDHC | cpx75 | no | no | no | Novel |
SDHA | SDHC | 0.891199307 | SDHA | SDHC | cpx75 | no | no | no | Novel |