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This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
[中文简述(自动翻译):]  该基因编码一个25 kD的微纤维相关的糖蛋白是细胞外基质的微纤维的组分。所编码的蛋白质促进经由字母V-β-3整联细胞附着到微纤维。该基因在小鼠缺乏导致中性粒细胞减少。在多个备选的转录剪接变异体导致编码不同亚型。 [由RefSeq的,2014年7月提供]
MFAP5基因(以及对应的蛋白质)的细胞分布位置:
MFAP5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AORTIC ANEURYSM, FAMILIAL THORACIC 9 | 0.12 | 1 | 0 | UNIPROT |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital aneurysm of ascending aorta | 0.000271442 | 1 | 0 | BeFree |
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
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