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LMBR1 encodes a member of the LMBR1-like membrane protein family.
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These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 (zeige TBX3 Antikörper) and TBX5 (zeige TBX5 Antikörper), and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1
Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome.
A novel 13 base pair insertion in the sonic hedgehog (zeige SHH Antikörper) ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
C to T transition in LMBR1 results in the dysregulation of sonic hedgehog (zeige SHH Antikörper), which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case
Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks.
intron 5 sequence of the Lmbr1 locus contains a major limb-specific sonic hedgehog (zeige SHH Antikörper) enhancer that is necessary for distal limb development
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.
limb region 1 homolog (mouse)
, limb region 1 protein
, limb region 1 protein homolog
, differentiation-related gene 14 protein
, limb region 1 homolog