Recombinant Human TSGA14 protein (ab164971)

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Overview

  • Product name
    Recombinant Human TSGA14 protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNY RYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASD PDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELD LDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATL SRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFML SGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPW K
    • Amino acids
      1 to 301
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164971 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • centrosomal protein 41 kDa
    • Centrosomal protein of 41 kDa
    • CEP 41
    • Cep41
    • CEP41_HUMAN
    • testis specific 14
    • testis specific gene A14
    • Testis specific gene A14 protein
    • testis specific protein A14
    • Testis-specific gene A14 protein
    see all
  • Function
    Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
  • Tissue specificity
    Isoform 1 and isoform 4 are expressed in testis and fetal tissues.
  • Involvement in disease
    Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15) [MIM:614464]. JBTS15 is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. 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 features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.
    Note=Genetic variations in CEP41 may be associated with susceptibility to autism.
  • Sequence similarities
    Belongs to the CEP41 family.
    Contains 1 rhodanese domain.
  • Domain
    Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (PubMed:22246503).
  • Cellular localization
    Cytoplasm > cytoskeleton > centrosome. Cell projection > cilium. Cytoplasm > cytoskeleton > cilium basal body. Localizes mainly to the cilium basal body and in primary cilia.
  • Information by UniProt

Images

  • ab164971 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164971 has not yet been referenced specifically in any publications.

Publishing research using ab164971? Please let us know so that we can cite the reference in this datasheet.

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