Gene: MID1

Alternate names for this Gene: 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. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: midline 1

Type of Gene: protein-coding

rs104894866 in MID1 gene and Opitz GBBB Syndrome, X-Linked PMID 9718340 1998 Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

PMID 9354791 1997 Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

PMID 15558842 2005 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

PMID 11030761 2000 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.

rs7053320 in MID1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.