Recombinant Human TSGA14 protein (ab164971)

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.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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