Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.[5][6][7]
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 (protein) 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 if this gene functions directly in limb development is unknown. 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.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000105983 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000010721 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P (Aug 1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342–51. doi:10.1006/geno.1999.5796. PMID 10329000.
^Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P (Jan 2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am J Hum Genet. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342.
^ ab"Entrez Gene: LMBR1 limb region 1 homolog (mouse)".
homolog is a protein that in humans is encoded by the LMBR1 gene. This gene encodes a member of the LMBR1-like membrane protein family. Another member of this...
polydactyly. Several genetic mechanisms can cause rear dewclaws; they involve the LMBR1 gene and related parts of the genome. Rear dewclaws often have no phalanx...
the Norwegian Lundehund and Great Pyrenees. A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly. A 2014 report indicated...
preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH. The LMBR1 gene is on human chromosome...
Cai L, Yuan H, Chen X, et al. (September 2020). "Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly...
non-functional protein. The C7rof2 gene is the human equivalent of the mouse gene LMBR1, which encodes an essential protein for limb development. When there is...
which functions as an ER retention signal. TMEM155 interacts with LMBR1 and TMEM259. LMBR1 is a known lipocalin transmembrane receptor. TMEM259 is another...
locus of the seventh chromosome. The gene that is mutated is usually the LMBR1 gene, this gene encodes a protein called Limb region 1 protein homolog....
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