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Limb Region 1 Homolog (LMBR1)

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TPT; ACHP; DIF14; PPD2; C7orf2; Differentiation-related gene 14 protein

Limb Region 1 Homolog (LMBR1)
CCC L670
HGNC 13243
MGI 1861746
PubMed 12032320
RGD 1563910
UniProt Q8WVP7
Wiki LMBR1
LMBR1 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Limb Region 1 Homolog (LMBR1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Limb Region 1 Homolog (LMBR1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Limb Region 1 Homolog (LMBR1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Limb Region 1 Homolog (LMBR1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Limb Region 1 Homolog (LMBR1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Limb Region 1 Homolog (LMBR1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Limb Region 1 Homolog (LMBR1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Limb Region 1 Homolog (LMBR1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Limb Region 1 Homolog (LMBR1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Limb Region 1 Homolog (LMBR1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Limb Region 1 Homolog (LMBR1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Limb Region 1 Homolog (LMBR1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Limb Region 1 Homolog (LMBR1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Limb Region 1 Homolog (LMBR1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Limb Region 1 Homolog (LMBR1) ELISA Kit Customized Service Offer
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  11. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome."Clin. Genet. 86:318-325(2014) [PubMed] [Europe PMC] [Abstract]
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  14. "A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form."Hum. Mutat. 35:945-948(2014) [PubMed] [Europe PMC] [Abstract]