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midline 1 (Opitz/BBB syndrome)

Cat：P07697

Summary:

【Derived From】： E.coli

【Endotoxin】： Not measured

【Amino Acid】： 100-450aa

【Purity】： ≥85% by SDS-PAGE.

【Name】： MID1

【Full Name】： midline 1 (Opitz/BBB syndrome)

【Uniprot】： O15344

【Gene ID】： 4281

【Mol Mass】： 40kDa

【Application】： Immunology research

【Purification】： NI-NTA affinity purification

【Bioactive】： N0

【Tag】： With a 6×His tag at the N/C-terminus.

【Concentration】： 1mg/ml by SDS-PAGE.

Store:

【Reconstitution】： Reconstituted protein solution can be diluted with distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. (It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water.)

【Storage】： Reconstituted protein solution can be stored at 4-7℃ for 1-2 weeks， stored at < -20℃ for 1 year.

【Formulation】： Powder: Lyophilized from a 0.2 μm filtered solution of 2-8M Urea, 20mM Tris-HCl, 150mM NaCl, 1mM DTT, PH7.2-8.0.

Background:

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities.

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