CALCA基因(Calcitonin-related polypeptide alpha,降钙素相关多肽α)编码降钙素(Calcitonin)和降钙素基因相关肽(CGRP,Calcitonin Gene-Related Peptide),这两种产物通过选择性RNA剪接产生,具有不同的生物学功能。降钙素主要由甲状腺C细胞分泌,参与钙磷代谢调节,通过抑制破骨细胞活性降低血钙水平;而CGRP是一种强效血管舒张神经肽,广泛分布于中枢和周围神经系统,参与疼痛传递、炎症反应及心血管调节(如扩张血管、调节血压)。CALCA基因突变可能导致降钙素或CGRP功能异常,例如降钙素分泌异常与甲状腺髓样癌(MTC)相关,而CGRP失调与偏头痛、高血压和心力衰竭等疾病密切相关。若CALCA过表达,可能因CGRP过量引发血管过度舒张(如偏头痛发作),或降钙素异常升高导致低钙血症;表达降低则可能影响骨代谢(如骨质疏松)或加剧心血管疾病风险。该基因属于降钙素基因家族(Calcitonin gene family),家族成员还包括CALCB(编码CGRP-β)等,共性为编码多肽激素或神经肽,参与代谢、神经信号传导和心血管调控。目前针对CGRP的抗体药物(如erenumab)已用于偏头痛治疗,体现了该基因的临床价值。
This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]
该基??因编码的肽类激素降钙素,降钙素基因相关肽和由该基因转录的组织特异性选择性RNA剪接和无活性的前体蛋白的裂解钙抑肽。降钙素参与钙调节,其作用是调节磷代谢。降钙素基因相关肽用作血管扩张剂和作为同时钙抑肽抗微生物肽是钙降肽??。多个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2014年8月提供]
CALCA基因(以及对应的蛋白质)的细胞分布位置:
CALCA基因的本体(GO)信息:
| 名称 |
|---|
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 名称 |
|---|
| Amyloids |
| Calcitonin-like ligand receptors |
| Class B/2 (Secretin family receptors) |
| Disease |
| G alpha (s) signalling events |
| GPCR downstream signaling |
| GPCR ligand binding |
| Signal Transduction |
| Signaling by GPCR |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hyperalgesia | 0.2 | 4 | 0 | CTD_human_RGD |
| Inflammation | 0.2 | 2 | 0 | CTD_human_RGD |
| Migraine Disorders | 0.133787454 | 25 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Hypertensive disease | 0.128815624 | 9 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Prostatic Neoplasms | 0.126263026 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Degenerative polyarthritis | 0.122909916 | 3 | 0 | BeFree_CTD_human_GAD |
| Hypercalcemia | 0.121357209 | 7 | 0 | BeFree_CTD_human |
| Pulmonary Hypertension | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Arthritis, Experimental | 0.12 | 1 | 0 | CTD_human |
| Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
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