Cyp24a1酶

WebA cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D 3) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D 3) (PubMed:24893882, PubMed:15574355, … WebJan 14, 2015 · NX_Q07973 - CYP24A1 - 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial - Function. A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the …

CYP24A1 Loss of Function: Clinical Phenotype of Monoallelic ... - PubMed

WebOct 13, 2024 · Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type … WebCYP24A1; 識別號; 別名: CYP24A1 ；, CP24, CYP24, HCAI, P450-CC24, cytochrome P450 family 24 subfamily A member 1, HCINF1: 外部ID: OMIM：126065 MGI：88593 … raymond guthrie capital impact https://lafamiliale-dem.com

Hypercalcemia, Hypercalciuria, and Elevated Calcitriol …

WebOct 1, 2015 · CYP24A1 mutations in patients with hypercalcemia (present study and literature). Schematic representation of the CYP24A1 gene: exons are identified as rectangle, coding sequence in white, untranslated sequence in gray. Intronic sequences are represented by straight solid lines between exons. Below, mutations identified in this … WebJul 6, 2015 · Abstract. This case report presents fluoconazole efficacy to reduce hypercalcaemia and increased urinary calcium excretion in a patient with nephrocalcinosis after a long history of recurrent renal stones caused by a loss-of-function mutation of the CYP24A1 gene. The CYP24A1 gene codes for a key enzyme in the vitamin D endocrine … WebCYP24A1 is thus a bona fide multicatalytic enzyme. The recombinant human CYP24A1 protein exhibited release of the product at each step of the C23- and C24-hydroxylation … raymond guthrie

CYP24A1 - an overview ScienceDirect Topics

Category:Vitamin D enzymes (CYP27A1, CYP27B1, and CYP24A1) and …

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Cyp24a1酶

UniProt

Web25-羟维生素D3-24-羟基化酶 (CYP24A1)是使1α,25-二羟基维生素D3 (1α,25 (OH)2D3)和25-羟基维生素D3 (25 (OH)D3)代谢失活的关键酶.活性维生素D (1α,25 (OH)2D3)不仅能够 … WebThe number of cysts ≥5 mm in size was above the 97.5th percentile of an age- and sex-matched control population in 55% and 67% of patients with confirmed and suspected pathogenic variants, respectively. At least 1 cyst (≥5 mm in size) was found in 80% of children with confirmed CYP24A1 deficiency. Conclusions: These observations strongly ...

Cyp24a1酶

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Web成年树鼩睾丸维生素d代谢酶cyp24a1表达与生育力相关研究阮蕾颖;施梅言;古文鹏;邱丹丹;陆彩霞;罕园园;王文广;代解杰;孙晓梅;59-64 α-倒捻子素对免疫抑制小鼠免疫功能的影响秦艳萍;李晓龙;李慧茹;陆春果;杨粤;张钧雄;65-71+94 WebMar 21, 2024 · CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP24A1 include Hypercalcemia, Infantile, 1 and Idiopathic Infantile …

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WebJul 1, 2012 · CYP24A1 is the cytochrome P450 component of the 25-hydroxyvitamin D (3)-24-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (3) (25-OH … WebLoss of function mutations in the CYP24A1 gene have been shown to lead to insufficient deactivation of bioactive vitamin D metabolites, resulting in a phenotype characterized by suppressed serum parathyroid hormone (PTH), increased serum 1,25-dihydroxyvitamin D (DHVD) concentrations, hypercalcemia, and hypercalciuria or nephrolithiasis.

WebCYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH) 2 D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH) 2 D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite …

Web细胞色素 P450 24A1（英语：Cytochrome P450 24A1，缩写CYP24A1）也被称为维生素D3 24-羟化酶（Vitamin D3 24-hydroxylase，EC 1.14.15.16），是细胞色素P450超家族的一 … simplicity\\u0027s fjWebIn fact, enhancement of CYP24A1 expression has been reported in literature for many cancers. Based on these findings, CYP24A1-specific inhibitors and vitamin D analogs which are resistant to CYP24A1-dependent catabolism might be useful for cancer treatment. CYP24A1-specific inhibitor VID400, which is an azole compound, markedly enhanced … simplicity\\u0027s fgWeb除了肾脏，研究人员发现各类免疫细胞也表达维生素d受体以及维生素d代谢关键酶，如cyp27b1，cyp24a1。 于是他们开始猜测：维生素D对免疫细胞的调节可能并不依赖于肾脏产生的活性维生素D，而是依赖于局部免疫细胞产生的高浓度活性维生素D，然后通过自分泌或 ... simplicity\u0027s fcWeb由于催化的特异性不同于其他种属动物，鸡1α羟化酶具有很大的应用潜力。 目前，人、猪、小鼠等多种脊椎动物细胞色素P450 1α羟化酶已经陆续被克隆和鉴定[7-8]，然而目前尚未见克隆、表达鸡细胞色素P450 1α羟化酶(CYP27C1)的报道。 simplicity\u0027s faWebDec 10, 2024 · Background and objectives: CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia, a large body of literature has emerged indicating heterogeneity in … simplicity\\u0027s fnWebAbstract. CYP24A1 is a mitochondrial inner-membrane cytochrome P450 enzyme that exhibits multifunctionality: it is able to hydroxylate both the C23 or the C24 side-chain … simplicity\\u0027s flWebPROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CYP24A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome P450 family 24 subfamily A member 1. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. CYP24A1 (CP24, CYP24, P450-CC24) Protein classi. simplicity\u0027s fg