Description

  • Product name

    Recombinant Human L1CAM protein (His tag)
  • Purity

    > 90 % SDS-PAGE.
    ab222980 was purified using conventional chromatography techniques.
  • Endotoxin level

    < 1.000 Eu/µg
  • Expression system

    Baculovirus infected insect cells
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      IQIPEELMEPPVITEQSPRRLVVFPTDDISLKCEASGKPEVQFRWTRDGV HFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKLGTAM SHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNS KILHIKQDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEP IDLRVKATNSMIDRKPRLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTI KWLRPSGPMPADRVTYQNHNKTLQLLKVGEEDDGEYRCLAENSLGSARHA YYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRPQPEVTWRINGIPVE ELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIYVVQL PAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERF FPYANGTLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGP RSTIEKKGSRVTFTCQASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDG RLVIHSLDYSDQGNYSCVASTELDVVESRAQLLVVGSPGPVPRLVLSDLH LLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPEKWYSLGKVPGNQTS TTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVDVKGE GNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLV VSNTSTFVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEIL NSSAVLVKWRPVDLAQVKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVP ANTTSVILSGLRPYSSYHLEVQAFNGRGSGPASEFTFSTPEGVPGHPEAL HLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDEGGKGQLSFNLRDPE LRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDFGNIS ATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSS YTQWDLQPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATELEHH HHHH
    • Predicted molecular weight

      124 kDa including tags
    • Amino acids

      20 to 1115
    • Tags

      His tag C-Terminus
    • Additional sequence information

      NP_001137435.

Specifications

Our Abpromise guarantee covers the use of ab222980 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 7.40
    Constituents: 10% Glycerol, PBS

General Info

  • Alternative names

    • Antigen identified by monoclonal antibody R1
    • CAML1
    • CD171
    • CD171 antigen
    • HSAS
    • HSAS1
    • Hyd
    • L1
    • L1 cell adhesion molecule
    • L1-NCAM
    • L1cam
    • L1CAM_HUMAN
    • MASA
    • MIC5
    • N CAML1
    • N-CAM-L1
    • NCAM-L1
    • NCAML1
    • Nerve-growth factor-inducible large external glycoprotein
    • Neural cell adhesion molecule L1
    • NILE
    • OTTHUMP00000025992
    • S10
    • SPG1
    see all
  • Function

    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.
  • Involvement in 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.
    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 similarities

    Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
    Contains 5 fibronectin type-III domains.
    Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
  • Cellular localization

    Cell membrane.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of 3 µg ab222980.

References

ab222980 has not yet been referenced specifically in any publications.

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