MID1

Chr XXLR

midline 1

Also known as: BBBG1, FXY, GBBB, GBBB1, MIDIN, OGS1, OS, OSX

NCBI Gene: 4281 ENSG00000101871 UniProt: O15344 OMIM: 300552

This protein is an E3 ubiquitin ligase that forms homodimers associated with microtubules and regulates protein phosphatase PP2A through ubiquitination of IGBP1. Mutations cause X-linked Opitz GBBB syndrome, characterized by midline developmental abnormalities including cleft lip, laryngeal cleft, congenital heart defects, hypospadias, and agenesis of the corpus callosum. The gene is highly constrained against loss-of-function variants and follows X-linked recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

LOFmechanismXLRLOEUF 0.301 OMIM phenotype

Clinical Summary— MID1

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Gene-Disease Validity (ClinGen)

X-linked Opitz G/BBB syndrome · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

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