| Entrez gene ID | | 4281 |
|
| Official gene symbol | | MID1 |
|
| Full name | | midline 1 (Opitz/BBB syndrome) |
|
| Aliases | | ,BBBG1,FXY,GBBB1,MIDIN,OGS1,OS,OSX,RNF59,TRIM18,XPRF,ZNFXY, |
|
| Gene summary | | 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. [provided by RefSeq] |
|
| Location | | Chromosome: X Locus: Xp22 |
|
| Gene position | | 10851809 - 10413350 Map Viewer |
|
| Gene orientation | | minus |
|
| Gene size | | 438460 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 300552 |
|
|
|
