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This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
[中文简述(自动翻译):]  该基因编码的ADAMTS的成员(去整合素和金属蛋白酶与血小板反应基序)的蛋白质家族。家庭共享几个不同的蛋白质模块的成员,包括一个前肽区,金属蛋白酶结构域,一个去整合素样结构域,和一个血小板1型(TS)的基序。这个家庭的各个成员在C端TS图案的数量不同,有的有独特的C端结构域。由该基因编码的酶切除的I型,II型和V型原胶原的N-前肽。突变这个基因导致埃勒斯 - 当洛综合征型VIIC,一个隐性遗传性结缔组织疾病。选择性剪接结果在多个抄本变形。 [由RefSeq的,2010年7月提供]
ADAMTS2基因(以及对应的蛋白质)的细胞分布位置:
ADAMTS2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | 0.441357209 | 5 | 2 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
Attention deficit hyperactivity disorder | 0.002638474 | 2 | 1 | BeFree_GAD |
Ehlers-Danlos Syndrome | 0.001900093 | 7 | 0 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Influenza | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Post-Traumatic Stress Disorder | 0.000271442 | 1 | 0 | BeFree |
Agitation | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Fibrous Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Psychotic symptom | 0.000271442 | 1 | 0 | BeFree |
Mammary Tumorigenesis | 0.000271442 | 1 | 0 | BeFree |
Mixed phenotype acute leukemia | 0.000271442 | 1 | 0 | BeFree |
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