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Limb region 1 protein homolog (LMBR1)
- Target
- LMBR1
- Molecular classification
- Transmembrane protein, Putative receptor (based on homology), Regulatory element carrier (carries a key regulatory module for sonic hedgehog gene within its intron)
01
Overview
Limb region 1 protein homolog (LMBR1) is a transmembrane protein encoded by the LMBR1 gene, located on chromosome 7. This gene harbors a highly conserved cis-acting regulatory module in one of its introns, which is essential for sonic hedgehog (SHH) gene expression during limb development. Disruption or mutation in the LMBR1 locus can alter SHH signaling, leading to congenital limb defects such as acheiropody and preaxial polydactyly. While LMBR1 is a member of a protein family that includes putative membrane receptors, its direct activity as a receptor or drug target is not well-established. Its primary biological significance relates to embryonic development and gene regulation, rather than pharmacological targeting[1][3][8].
- Other names
- LMBR1Limb development membrane protein 1ACHPC7orf2DIF14PPD2TPTZRSLSSTHYPDifferentiation-related gene 14 protein
02
Mechanism of action
Not applicable; no drugs known to act on LMBR1
03
Biological functions
Putative transmembrane signaling receptor activityInvolvement in limb development (indirect via regulatory module)Regulation of sonic hedgehog (SHH) gene expression and limb patterning
04
Disease associations
Congenital limb malformations (Acheiropody, Preaxial polydactyly, Laurin-Sandrow syndrome)
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