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Product Name ALS2CR4 Chinese Name 肌萎缩侧索硬化症相关蛋白4抗体 Alias ALS2CR4 protein, N terminus truncated; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; TM237_HUMAN. Research Area Cell biology immunology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Pig, Horse, Rabbit, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 45kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human ALS2CR4: 156-250/408 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].
Function:
Component of the transition zone in primary cilia. Required for ciliogenesis.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
DISEASE:
Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.
Similarity:
Belongs to the TMEM237 family.
SWISS:
Q96Q45
Gene ID:
65062
Database links:Entrez Gene: 65062 Human
Entrez Gene: 381259 Mouse
SwissProt: Q96Q45 Human
SwissProt: Q3V0J1 Mouse
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