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Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]
[中文简述(自动翻译):]  辅酶A(辅酶A)的功能如细胞乙酰和酰基的载体,从而起到在所有生物体大量合成和降解的代谢途径中起重要作用。在真核生物中,辅酶A和其衍生物也参与膜运输和信号转导。该基因编码的双功能蛋白质辅酶A合成酶(CoAsy),其执行在辅酶A从泛酸(维生素B5)的生物合成中的最后两个步骤。而其脱磷酸-CoA激酶结构域完成通过磷酸dpCoA以形成辅酶A的最后步骤中,该双功能蛋白质的phosphopantetheine腺苷酰转移酶结构域催化4‘- phosphopantetheine转化成脱磷酸辅酶A(dpCoA)。在这种基因突变与脑铁累积的(NBIA)神经变性有关。选择性剪接的结果在多个同种型。 [由RefSeq的,2014年4月提供]
COASY基因(以及对应的蛋白质)的细胞分布位置:
COASY基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 | 0.36 | 1 | 2 | CLINVAR_ORPHANET_UNIPROT |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Pseudohypoparathyroidism, Type Ia | 0.001900093 | 7 | 0 | BeFree |
Pseudohypoparathyroidism | 0.001357209 | 5 | 0 | BeFree |
Fibrous Dysplasia | 0.001357209 | 5 | 0 | BeFree |
Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Pseudopseudohypoparathyroidism | 0.000814326 | 3 | 0 | BeFree |
Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Albright's hereditary osteodystrophy | 0.000814326 | 3 | 0 | BeFree |
Uveal melanoma | 0.000542884 | 2 | 0 | BeFree |
McCune-Albright Syndrome | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Neurodegeneration with brain iron accumulation (NBIA) | 0.000542884 | 2 | 0 | BeFree |
Congenital adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Bone Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Endocrine System Diseases | 0.000271442 | 1 | 0 | BeFree |
Osteitis Fibrosa Disseminata | 0.000271442 | 1 | 0 | BeFree |
Hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 8 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Cyst | 0.000271442 | 1 | 0 | BeFree |
Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
Precocious Puberty | 0.000271442 | 1 | 0 | BeFree |
Vitamin D Deficiency | 0.000271442 | 1 | 0 | BeFree |
Hyperphosphatemia (disorder) | 0.000271442 | 1 | 0 | BeFree |
Thyroid Gland Follicular Adenoma | 0.000271442 | 1 | 0 | BeFree |
Memory impairment | 0.000271442 | 1 | 0 | BeFree |
Extrapyramidal sign | 0.000271442 | 1 | 0 | BeFree |
Osteodystrophy | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism | 0.000271442 | 1 | 0 | BeFree |
Adrenal hypertrophy or hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Pancreatic intraepithelial neoplasia | 0.000271442 | 1 | 0 | BeFree |
Adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
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