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The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
[中文简述(自动翻译):]  由该基因编码的蛋白质是属于免疫球蛋白超基因家族的轴突糖蛋白。的胞外域,由几个免疫球蛋白样结构域和纤连蛋白样重复(III型)的,通过单跨膜序列的保守的胞质域相关。这种细胞粘附分子起着神经系统的发育,包括神经细胞迁移和分化中起重要作用。突变称为CRASH(胼胝体发育不全,迟钝,失语,痉挛性截瘫和脑积水)基因导致X连锁的神经系统综合征。在多个转录变异体本基因的结果的选择性剪接,其中一些包括被认为是特定的神经元的替代外显子。 [由RefSeq的,2013年5月提供]
L1CAM基因(以及对应的蛋白质)的细胞分布位置:
L1CAM基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| MASA SYNDROME (disorder) | 0.565428837 | 32 | 5 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| X-linked hydrocephalus syndrome | 0.492757768 | 54 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Hirschsprung Disease | 0.12953026 | 7 | 0 | BeFree_CTD_human_LHGDN |
| Spastic Paraplegia | 0.123257302 | 12 | 0 | BeFree_CLINVAR |
| Renal Cell Carcinoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Aphasia | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Congenital Hand Deformities | 0.12 | 1 | 0 | CTD_human |
| Gait Disorders, Neurologic | 0.12 | 1 | 0 | CTD_human |
| Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction | 0.12 | 0 | 0 | CLINVAR |
| Anxiety Disorders | 0.08 | 1 | 0 | RGD |
| Depressive disorder | 0.08 | 1 | 0 | RGD |
| Neoplasm Metastasis | 0.010063212 | 19 | 0 | BeFree_LHGDN |
| Hydrocephalus | 0.009520329 | 17 | 0 | BeFree_LHGDN |
| Schizophrenia | 0.007729856 | 3 | 0 | BeFree_GAD_LHGDN |
| melanoma | 0.007077352 | 8 | 0 | BeFree_LHGDN |
| Colonic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Colorectal Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Mental Retardation | 0.003800186 | 14 | 0 | BeFree |
| Glioma | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Malignant neoplasm of ovary | 0.003452799 | 5 | 0 | BeFree_GAD |
| Tumor Progression | 0.003257302 | 12 | 0 | BeFree |
| Brain Neoplasms | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| ovarian neoplasm | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Endometriosis | 0.00272435 | 1 | 0 | LHGDN |
| Gastrointestinal Stromal Tumors | 0.00272435 | 1 | 0 | LHGDN |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| body mass | 0.002367032 | 1 | 0 | GAD |
| Sleep Disorders | 0.002367032 | 1 | 0 | GAD |
| Agenesis of corpus callosum | 0.002171535 | 8 | 0 | BeFree |
| Congenital Hydrocephalus | 0.001900093 | 7 | 0 | BeFree |
| nervous system disorder | 0.001628651 | 6 | 0 | BeFree |
| Ovarian Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Endometrial Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Epithelial ovarian cancer | 0.001628651 | 6 | 0 | BeFree |
| Familial Hypophosphatemic Rickets | 0.001357209 | 5 | 0 | BeFree |
| Vitamin D-Resistant Rickets, X-Linked | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
| Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.001085767 | 4 | 0 | BeFree |
| Muscle Spasticity | 0.001085767 | 4 | 0 | BeFree |
| Nephrogenic Diabetes Insipidus | 0.001085767 | 4 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.001085767 | 4 | 0 | BeFree |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Stomach Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Mental Retardation, X-Linked | 0.001085767 | 4 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.001085767 | 4 | 0 | BeFree |
| Colorectal Cancer | 0.001085767 | 4 | 0 | BeFree |
| Hirschsprung disease 1 | 0.001085767 | 4 | 0 | BeFree |
| Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
| Muscular fasciculation | 0.000814326 | 3 | 0 | BeFree |
| Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
| Thumb in palm deformity | 0.000814326 | 3 | 2 | BeFree |
| Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
| Nephrogenic Diabetes Insipidus, Type I | 0.000814326 | 3 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Fetal Alcohol Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Severe mental retardation (I.Q. 20-34) | 0.000542884 | 2 | 0 | BeFree |
| Spastic Paraplegia, Hereditary | 0.000542884 | 2 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Intrahepatic Cholangiocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of kidney | 0.000542884 | 2 | 0 | BeFree |
| Renal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Aqueductal Stenosis | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
| Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
| Gerstmann-Straussler-Scheinker Disease | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Ichthyoses | 0.000271442 | 1 | 0 | BeFree |
| Congenital ichthyosis | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Neoplasms, Experimental | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of testis | 0.000271442 | 1 | 0 | BeFree |
| Pelizaeus-Merzbacher Disease | 0.000271442 | 1 | 0 | BeFree |
| Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
| Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Atresia | 0.000271442 | 1 | 0 | BeFree |
| Congenital anomaly of the kidney | 0.000271442 | 1 | 0 | BeFree |
| Double kidney (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Disseminated neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Dementia | 0.000271442 | 1 | 0 | BeFree |
| Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Stage 4S neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| NEUROTICISM | 0.000271442 | 1 | 0 | BeFree |
| Rhombencephalosynapsis | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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