Cell Biology Antibodies 17
Anti-LMBR1 Antibody (CAB18484)
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- SKU:
- CAB18484
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-LMBR1 Antibody |
| Antibody SKU: | CAB18484 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant protein of human LMBR1. |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant protein of human LMBR1. |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 64327 |
| Uniprot: | Q8WVP7 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | Refer to figures |
| Synonyms: | ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS, LMBR1 |
| Background: |
| UniProt Protein Function: | LMBR1: Putative membrane receptor. Defects in LMBR1 are associated with preaxial polydactyly type 2 (PPD2); 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. Defects in LMBR1 are the cause of acheiropody (ACHP). 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. Defects in LMBR1 are a cause of syndactyly type 4 (SDTY4). 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. Belongs to the LIMR family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Membrane protein, integral; Receptor, misc. Chromosomal Location of Human Ortholog: 7q36 Disease: Acheiropody; Laurin-sandrow Syndrome; Polydactyly, Preaxial Ii; Syndactyly, Type Iv; Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
| NCBI Summary: | 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] |
| UniProt Code: | Q8WVP7 |
| NCBI GenInfo Identifier: | 74730878 |
| NCBI Gene ID: | 64327 |
| NCBI Accession: | Q8WVP7.1 |
| UniProt Secondary Accession: | Q8WVP7,Q8N3E3, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2 A4D242, |
| UniProt Related Accession: | Q8WVP7 |
| Molecular Weight: | 59,458 Da |
| NCBI Full Name: | Limb region 1 protein homolog |
| NCBI Synonym Full Names: | limb development membrane protein 1 |
| NCBI Official Symbol: | LMBR1 |
| NCBI Official Synonym Symbols: | LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; C7orf2 |
| NCBI Protein Information: | limb region 1 protein homolog |
| UniProt Protein Name: | Limb region 1 protein homolog |
| UniProt Synonym Protein Names: | Differentiation-related gene 14 protein |
| Protein Family: | Limb region 1 protein |
| UniProt Gene Name: | LMBR1 |
| UniProt Entry Name: | LMBR1_HUMAN |
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