Official Full Name

midline 1 (Opitz/BBB syndrome)

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. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined.

Synonyms

MID1; midline 1 (Opitz/BBB syndrome); midline-1; FXY; OS; RNF59; TRIM18; BBBG 1; BBBG1; Finger on X and Y mouse homolog of; GBBB 1; GBBB1; MID 1; Midin; Midline 1; Midline 1 ring finger; Midline 1 RING finger protein; Midline1; OGS 1; OGS1; OSX; Putative transcription factor XPRF; RING finger protein 59; RNF 59; TRI18; TRI18_HUMAN; TRIM 18; Tripartite motif containing protein 18; Tripartite motif protein TRIM18; Tripartite motif-containing protein 18; XPRF; Zinc finger X and Y; ZNFXY; OTTHUMP00000022896; OTTHUMP00000022898; OTTHUMP00000022899; OTTHUMP00000022900; OTTHUMP00000022901; OTTHUMP00000022902; tripartite; zinc finger on X and Y, mouse, homolog of; FLJ57031; FLJ58683; FLJ76288; OS, FXY, OSX, OGS1, XPRF, BBBG1, GBBB1, MIDIN, RNF59, ZNFXY, TRIM18