This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]
该基因编码的丝氨酸蛋白酶的激肽释放酶亚家族的一个成员。这些酶具有不同的生理功能和许多激肽释放酶基因对癌症生物标志物。所编码的蛋白质具有胰凝乳蛋白酶样活性,起着间内聚的结构的那之前脱屑,表皮的最外层的脱落的蛋白水解的作用。所编码的蛋白质可能在癌症的侵袭和转移的作用,并增加该基因的表达与预后不良和几种类型的癌症的进展有关。在这种基因多态性可能在特应性皮炎的发展中的作用。可变剪接转录物变体编码的多个同种型已被观察到该基因,这是位于一个基因簇上[通过的RefSeq,2011年05月提供]染色体19 15激肽释放酶亚家族成员1
KLK7基因(以及对应的蛋白质)的细胞分布位置:
KLK7基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Dermatitis, Atopic | 0.008630058 | 3 | 0 | BeFree_GAD_LHGDN |
Eczema | 0.003724241 | 5 | 0 | BeFree_GAD |
ovarian neoplasm | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Dementia | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of prostate | 0.002638474 | 2 | 0 | BeFree_GAD |
Dermatitis and eczema | 0.002367032 | 1 | 0 | GAD |
Ovarian Carcinoma | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of ovary | 0.001900093 | 7 | 0 | BeFree |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
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