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Article

The Opitz syndrome gene product, MID1, associates with microtubules.

Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 1999

Schweiger S, Foerster J, Lehmann T, Suckow V, Muller Y A, Walter G, Davies T, Porter H, van Bokhoven H, Lunt P W, Traub P, Ropers H H

Abstract excerpt

Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, heart defects, and mental retardation. We recently identified the gene responsible for X-linked OS. The ubiquitously expressed gene product,...

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Source

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Identifiers

PMID: 10077590
DOI: 10.1073/pnas.96.6.2794
PMCID: PMC15848

Genes

MID1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10077590-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Opitz syndrome gene product, MID1, associates with microtubules.PMID 10077590Read ↗

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.Semantic proximity Read ↗

The MID1 protein is a central player during development and in disease.Semantic proximity Read ↗

Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.Semantic proximity Read ↗

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.Semantic proximity Read ↗

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.Semantic proximity Read ↗

The MID1 gene product in physiology and disease.Semantic proximity Read ↗

Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A.Semantic proximity Read ↗

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.Semantic proximity Read ↗

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.Semantic proximity Read ↗

A structure-function study of MID1 mutations associated with a mild Opitz phenotype.Semantic proximity Read ↗

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.Semantic proximity Read ↗

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersSemantic proximity Read ↗

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