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Limb region 1 homolog

Lmbr1, PPD2, ACHP, C7orf2
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Shh, HAD, PPD, CIs, ACID
Papers on Lmbr1
Novel copy number variants and major limb reduction malformation: Report of three cases.
Alkuraya et al., Riyadh, Saudi Arabia. In Am J Med Genet A, Feb 2016
spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1.
The IκB kinase inhibitor ACHP strongly attenuates TGFβ1-induced myofibroblast formation and collagen synthesis.
Bank et al., Groningen, Netherlands. In J Cell Mol Med, Dec 2015
ACHP {2-Amino-6-[2-(cyclopropylmethoxy)-6-hydroxyphenyl]-4-(4-piperidinyl)-3 pyridinecarbonitrile}, a selective inhibitor of IKK, prohibits the activation of the NF-κB pathway.
Fly LMBR1/LIMR-type protein Lilipod promotes germ-line stem cell self-renewal by enhancing BMP signaling.
Pignoni et al., Syracuse, United States. In Proc Natl Acad Sci U S A, Dec 2015
Limb development membrane protein-1 (LMBR1)/lipocalin-interacting membrane receptor (LIMR)-type proteins are putative nine-transmembrane receptors that are evolutionarily conserved across metazoans.
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
Escande et al., Lille, France. In Clin Genet, Nov 2015
The proband's father had isolated preaxial polydactyly type II (PPD2).
A Repressor Protein Complex Regulates Leaf Growth in Arabidopsis.
Inzé et al., Gent, Belgium. In Plant Cell, Aug 2015
D3-type cyclin encoding genes were identified among direct targets of PPD2, being negatively regulated by PPDs and KIX8/9.
Structural and spectroscopic characterizations on the charge-transfer interactions of the second generation poly(propylene amine) dendrimers with iodine and picric acid acceptors.
Refat et al., Az Zaqāzīq, Egypt. In Spectrochim Acta A Mol Biomol Spectrosc, Mar 2015
Herein, this study was focused to get a knowledge about the intermolecular charge transfer complexes between the second generation of poly(propylene amine) dendrimer (PPD2) with picric acid (PA) and iodine (I2) as π and σ-acceptors.
Induction of indoleamine 2, 3-dioxygenase in human dendritic cells by a cholera toxin B subunit-proinsulin vaccine.
Langridge et al., Loma Linda, United States. In Plos One, 2014
Treatment of vaccinated DCs with pharmacological NF-κB inhibitors ACHP or DHMEQ significantly inhibited IDO1 biosynthesis, suggesting a role for NF-κB signaling in vaccine up-regulation of dendritic cell IDO1.
Genome-wide linkage analysis and association study identifies loci for polydactyly in chickens.
Wen et al., China. In G3 (bethesda), 2014
Of the identified SNPs, the eight nearest genes were sonic hedgehog (SHH), limb region 1 homolog (mouse) (LMBR1), dipeptidyl-peptidase 6, transcript variant 3 (DPP6), thyroid-stimulating hormone, beta (TSHB), sal-like 4 (Drosophila) (SALL4), par-6 partitioning defective 6 homolog beta (Caenorhabditis elegans) (PARD6B), coenzyme Q5 (COQ5), and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, etapolypeptide (YWHAH).
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
Shah et al., India. In Am J Med Genet A, 2014
g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
Altered expression of Arabidopsis genes in response to a multifunctional geminivirus pathogenicity protein.
Sunter et al., In Bmc Plant Biol, 2013
Transcriptional regulation by AC2 appears to be mediated through interaction with a plant specific DNA binding protein, PEAPOD2 (PPD2), that specifically binds to sequences known to mediate activation of the CP promoter of Cabbage leaf curl virus (CaLCuV) and Tomato golden mosaic virus (TGMV).
LMBD1 protein serves as a specific adaptor for insulin receptor internalization.
Chang et al., In J Biol Chem, 2013
The limb region 1 (LMBR1) domain containing 1 gene (lmbrd1) encodes the LMBD1 protein that possesses 9 putative transmembrane domains.
Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
Alkuraya et al., Riyadh, Saudi Arabia. In Am J Med Genet A, 2013
In humans, the ZRS is located in chromosome 7q36 within intron 5 of LMBR1; approximately 1 Mb telomeric of SHH.
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Nordgren et al., Stockholm, Sweden. In Hum Mutat, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
Kjaer et al., Faisalābād, Pakistan. In Eur J Hum Genet, 2010
Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb.
The Hemimelic extra toes mouse mutant: Historical perspective on unraveling mechanisms of dysmorphogenesis.
Kochhar et al., United States. In Birth Defects Res C Embryo Today, 2010
High-resolution genome mapping identified the Hx mutation as a G --> A base pair transition within Intron 5 of the murine Lmbr1 locus.
Intriguing balancing selection on the intron 5 region of LMBR1 in human population.
Zhang et al., Kunming, China. In Plos One, 2007
Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks.
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
Kong et al., Shanghai, China. In Biochem Biophys Res Commun, 2007
C to T transition in LMBR1 results in the dysregulation of sonic hedgehog, which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case
Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.
Shiroishi et al., Mishima, Japan. In Development, 2005
intron 5 sequence of the Lmbr1 locus contains a major limb-specific sonic hedgehog enhancer that is necessary for distal limb development
[Progress on polydactyly character of vertebrate].
Qiu et al., Beijing, China. In Yi Chuan, 2004
The latest research results on human and mouse further shows that PPD should be caused by the disruption of a long range cis-acting regulator for Shh within Lmbr1 intron.
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Chalidapong et al., Chiang Mai, Thailand. In Am J Med Genet, 2000
A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2).
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