Human L1CAM protein fragment (ab91697)
- Product nameHuman L1CAM protein fragment
- SourceE. coli
- Amino Acid Sequence
- Sequence(Amino acid sequence (Sequence determined by 5' Sequencing))
QLLVVGSPGPVPRLVLSDLHLLTQSQ VRVSWSPAEDHNAPIEKYDIEFEDK EMAPEKWYSLGKV PGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSET VVTPEAAPEKNPVDVKGEGNETTNMVITWKPLRWMDWNAP QVQYRVQWRPQ GTRGPWQEQIVSDPFLVVSNTSTFVPY EIKVQAVNSQGKGPEPQVTIGYSG EDYPQAIPELEGIE ILNSSAVLVKWRPVDLAQVKGHLRGYNVTYWREGSQR K HSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG RGSGPASEFT FSTPEGVPGHPEALHLECQSNTSLLLRW QPPLSHNGVLTGYVLSYHPLDEG GKGQLSFNLRDPELR THNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTM AL SGISDFGNISATAGENYSVVSWVPKEGQCNFRFHILFKAL GEEKGGASL SP
- Amino acids605 to 1065
Our Abpromise guarantee covers the use of ab91697 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
- Additional NotesProtein Identity confirmed by Mass Spectrometry (MS/MS) (acquired on initial reference batch)
- Concentration information loading...
Preparation and Storage
- Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
Constituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5
- ReconstitutionReconstitute with 58 µl aqua dest
- Antigen identified by monoclonal antibody R1
- CD171 antigen
- L1 cell adhesion molecule
- N CAML1
- Nerve-growth factor-inducible large external glycoprotein
- Neural cell adhesion molecule L1
- FunctionCell 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.
- Involvement in diseaseDefects 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.
- Sequence similaritiesBelongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Contains 5 fibronectin type-III domains.
Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
- Cellular localizationCell membrane.
Human L1CAM protein fragment images
The image shows an electrophoretic assay performed using an Agilent 5100 ALP. In some images coloured control bands can be seen at 15 kDa (green) and/or 240 kDa (purple). The protein-specific band is blue.
References for Human L1CAM protein fragment (ab91697)
ab91697 has not yet been referenced specifically in any publications.