Description: Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. RefSeq Summary (NM_022458): 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]. Transcript (Including UTRs) Position: hg19 chr7:156,473,570-156,685,902 Size: 212,333 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr7:156,476,772-156,685,687 Size: 208,916 Coding Exon Count: 17
ID:LMBR1_HUMAN DESCRIPTION: RecName: Full=Limb region 1 protein homolog; AltName: Full=Differentiation-related gene 14 protein; FUNCTION: Putative membrane receptor. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Widely expressed with strongest expression in heart and pancreas. DISEASE: Defects in LMBR1 are associated with preaxial polydactyly type 2 (PPD2) [MIM:174500]; also known as polydactyly of triphalangeal thumb. Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. The mutations do not change the normal expression of LMBR1, but alter the expression of SHH by disrupting a long-range, cis-regulatory element of that gene. DISEASE: Defects in LMBR1 are the cause of acheiropody (ACHP) [MIM:200500]. Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of all the bones of the hands and feet. This syndrome of autosomal recessive inheritance has only been observed in Brazil so far. DISEASE: Defects in LMBR1 are a cause of syndactyly type 4 (SDTY4) [MIM:186200]. SDTY4 is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The condition is inherited as an autosomal dominant trait. SIMILARITY: Belongs to the LIMR family. SEQUENCE CAUTION: Sequence=AAD43188.1; Type=Erroneous initiation; Sequence=AAK31345.1; Type=Erroneous initiation; Sequence=BAB15595.1; Type=Erroneous initiation;
Calcium-Binding Proteins Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
Calcium-Binding Proteins Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04791 - LMBR1-like membrane protein
ModBase Predicted Comparative 3D Structure on Q8WVP7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
