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The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质结合至钙调蛋白,??并在中心体中被表达。它是pericentriolar材料(PCM)的一个组成部分。该蛋白质包含一系列卷曲螺旋结构域的和称为邻近C末端的PACT域的高度保守的PCM靶向序。该蛋白与微管成核组分的γ-微管蛋白相互作用,是将中心体的正常功能,细胞骨架和细胞周期进程可能非常重要。突变这个基因导致泽克尔综合征-4和microcephalic osteodysplastic原始侏儒症II型。 [由RefSeq的,2008年7月提供]
PCNT基因(以及对应的蛋白质)的细胞分布位置:
PCNT基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | 0.241900093 | 7 | 0 | BeFree_CTD_human_ORPHANET |
| Seckel syndrome | 0.241085767 | 4 | 0 | BeFree_CTD_human_ORPHANET |
| SECKEL SYNDROME 2 | 0.12 | 1 | 0 | CTD_human |
| Schizophrenia | 0.008186863 | 5 | 0 | BeFree_GAD |
| Bipolar Disorder | 0.008001298 | 2 | 0 | BeFree_GAD_LHGDN |
| Dwarfism | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Major Depressive Disorder | 0.002909916 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| Glomerular filtration rate finding | 0.002367032 | 1 | 1 | GAD |
| Microcephaly | 0.000814326 | 3 | 0 | BeFree |
| Unipolar Depression | 0.000542884 | 2 | 0 | BeFree |
| PITUITARY DWARFISM I | 0.000542884 | 2 | 0 | BeFree |
| Mental disorders | 0.000271442 | 1 | 0 | BeFree |
| Blast Phase | 0.000271442 | 1 | 0 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Porphyria Cutanea Tarda | 0.000271442 | 1 | 0 | BeFree |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
| Osteodysplastic primordial dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Dyslexia | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Autosomal Recessive Primary Microcephaly | 0.000271442 | 1 | 0 | BeFree |
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