| Product Name | Human Meckelin (TMEM67) ELISA Kit |
|---|---|
| Description | TMEM67 localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). The human TMEM67 gene encodes a 995-amino acid protein, which they authors called meckelin, with a calculated unglycosylated weight of 108 kD. Human and rat meckelin share 84% identity. Meckelin was predicted to contain a signal peptide, at least 2 cysteine-rich repeats, and a 490-residue extracellular region with 4 N-linked glycosylated sites, followed by 7 transmembrane domains and a 30-residue cytoplasmic tail. This assay has high sensitivity and excellent specificity for detection of Human TMEM67. No significant cross-reactivity or interference between Human TMEM67 and analogues was observed. |
| Synonyms | JBTS6, MECKELIN, MGC26979, MKS3, TNEM67, meckelin |
| Method | Sandwich ELISA |
| Detection Range | Request Information |
| Sensitivity | Request Information |
| Reactivity | Human |
| Sample Types | Serum, Plasma, Other biological fluids. |
| Background | TMEM67 localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). The human TMEM67 gene encodes a 995-amino acid protein, which they authors called meckelin, with a calculated unglycosylated weight of 108 kD. Human and rat meckelin share 84% identity. Meckelin was predicted to contain a signal peptide, at least 2 cysteine-rich repeats, and a 490-residue extracellular region with 4 N-linked glycosylated sites, followed by 7 transmembrane domains and a 30-residue cytoplasmic tail. |
| Supplier | Abebio |
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