Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family.

The Journal of biological chemistry - 19 Jan 2007

Esumi Noriko, Kachi Shu, Campochiaro Peter A, Zack Donald J

Abstract excerpt

The retinal pigment epithelium (RPE) is crucial for the function and survival of retinal photoreceptors. VMD2 encodes bestrophin, an oligomeric chloride channel that is preferentially expressed in the RPE and, when mutated, causes Best macular dystrophy. Previously, we defined the VMD2 upstream region from -253 to +38 bp as being sufficient to direct RPE-specific expression in the eye, and we suggested...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Share to Bestrophins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Ion Channels

Share to Mice, Transgenic

Share to Microphthalmia-Associated Transcription Factor

Share to RNA, Small Interfering

Share to Transcriptional Activation

Source

Identifiers

PMID: 17085443
DOI: 10.1074/jbc.M609517200

Genes

MITF
RPE
TFEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family.PMID 17085443Read ↗

BEST1 expression in the retinal pigment epithelium is modulated by OTX family membersSemantic proximity Read ↗

Mitf-D, a newly identified isoform, expressed in the retinal pigment epithelium and monocyte-lineage cells affected by Mitf mutations.Semantic proximity Read ↗

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).Semantic proximity Read ↗

Cloning and characterization of the murine Vmd2 RFP-TM gene familySemantic proximity Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.Semantic proximity Read ↗

[VMD2 and its role in Best's disease and other retinopathies].Semantic proximity Read ↗

The Microphthalmia-Associated Transcription Factor (MITF) and Its Role in the Structure and Function of the Eye.Semantic proximity Read ↗

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).Semantic proximity Read ↗

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.Semantic proximity Read ↗

Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters.Semantic proximity Read ↗

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.