Recombinant Human TSGA14 protein (ab164971)
- Datasheet
- References
- Protocols
Overview
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Product name
Recombinant Human TSGA14 protein -
Protein length
Full length protein
Description
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Nature
Recombinant -
Source
Wheat germ -
Amino Acid Sequence
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Species
Human -
Sequence
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNY RYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASD PDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELD LDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATL SRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFML SGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPW K -
Amino acids
1 to 301 -
Tags
GST tag N-Terminus
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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.
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Applications
Western blot
ELISA
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Form
Liquid -
Additional notes
Protein concentration is above or equal to 0.05 mg/ml. -
Concentration information loading...
Preparation and Storage
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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
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Alternative names
- centrosomal protein 41 kDa
- Centrosomal protein of 41 kDa
- CEP 41
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
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SDS-PAGE - Recombinant Human TSGA14 protein (ab164971)ab164971 on a 12.5% SDS-PAGE stained with Coomassie Blue.
Datasheets and documents
References
ab164971 has not yet been referenced specifically in any publications.
