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MID1 Full-Length MS Protein Standard

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Product Description


NameMID1 Full-Length MS Protein Standard
Cat#CPFL308776
Protein Namemidline 1 (Opitz/BBB syndrome)
SymbolMID1
SynonymsBBBG1; FXY; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY
AccessionNM_000381
CytogeneticXp22
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionMID1 Full-Length MS Protein Standard (NP_000372), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined.

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