Reactive species
Human;Mouse;Rat;Dog;Rabbit
Antibody type
Monoclonal antibodies
Protein name
Neural cell adhesion molecule L1
Immunogen
Purified recombinant human NCAM-L1 (N-terminus) protein fragments expressed in E.coli.
Specificity
NCAM-L1 Monoclonal Antibody detects endogenous levels of NCAM-L1 protein.
Constitute
Purified mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH 7.4, 150 mM NaCl) with 0.2% sodium azide, 50% glycerol.
Dilution rate
Western Blot: 1/1000 - 1/2000. Not yet tested in other applications.
Purification process
Affinity purification
Other name
L1CAM; CAML1; MIC5; Neural cell adhesion molecule L1; N-CAM-L1; NCAM-L1; CD antigen CD171
Background
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],
Function
disease:Defects in L1CAM are a cause of partial agenesis of the corpus callosum [MIM:304100]; a X-linked disorder.,disease: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.,disease:Defects in L1CAM are the cause of mental retardation-aphasia-shuffl
