|Other Names||Limb region 1 protein homolog, Differentiation-related gene 14 protein, LMBR1, C7orf2, DIF14|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Putative membrane receptor.|
|Cellular Location||Membrane; Multi-pass membrane protein|
|Tissue Location||Widely expressed with strongest expression in heart and pancreas.|
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This gene encodes a member of the LMBR1-like membraneprotein family. Another member of this protein family has beenshown to be a lipocalin transmembrane receptor. A highly conserved,cis-acting regulatory module for the sonic hedgehog gene is locatedwithin an intron of this gene. Consequently, disruption of thisgenic region can alter sonic hedgehog expression and affect limbpatterning, but it is not known if this gene functions directly inlimb development. Mutations and chromosomal deletions andrearrangements in this genic region are associated with acheiropodyand preaxial polydactyly, which likely result from altered sonichedgehog expression.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Farooq, M., et al. Eur. J. Hum. Genet. 18(6):733-736(2010)Rutsch, F., et al. Nat. Genet. 41(2):234-239(2009)He, F., et al. PLoS ONE 3 (8), E2948 (2008) :Wang, Z.Q., et al. Biochem. Biophys. Res. Commun. 355(2):312-317(2007)
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