The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
追加情報IHC-P: 1/100 for 30 min at RT. Staining of formalin-fixed tissues requires boiling tissue sections in 10mM citrate buffer, pH 6.0, for 10-20 min followed by cooling at RT for 20 min. Requires detection with a high-sensitivity detection system.
IP: Use at 2µg/mg of lysate.
WB: Use at a concentration of 1 - 2 µg/ml for 2hrs at RT. Predicted molecular weight: 140 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
機能Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.
関連疾患Defects in L1CAM are the cause of hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]. Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged brain ventricles. Defects in L1CAM are the cause of mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]; also known as corpus callosum hypoplasia, psychomotor retardation, adducted thumbs, spastic paraparesis, and hydrocephalus or CRASH syndrome. MASA is an X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. Defects in L1CAM are the cause of spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis. Defects in L1CAM are a cause of partial agenesis of the corpus callosum (ACCPX) [MIM:304100]. A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.
配列類似性Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. Contains 5 fibronectin type-III domains. Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Patel K et al. Monoclonal antibody UJ127.11 recognizes the human homologue of mouse L1 cell adhesion molecule. Biochem Soc Trans18:274 (1990).
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Kemshead JT et al. Monoclonal antibody UJ 127:11 detects a 220,000-240,000 kdal. glycoprotein present on a sub-set of neuroectodermally derived cells. Int J Cancer31:187-95 (1983).
Read more (PubMed: 6826247) »