Recombinant Human ALBP Protein (RMPP-00230806)
Cat. No.: RMPP-00230806
Category: Recombinant Protein
Research Area: Epigenetics and Nuclear Signaling
INQUIRY
100 μg
Customer Size
Product Features
| Source | E.coli |
|---|---|
| Purity | > 95% SDS-PAGE. >95% as determined by SDS-PAGE and HPLC. |
| Nature | Recombinant |
| Endotoxin Level | < 1.000 Eu/µg |
| Animal Free | No |
| Form | Lyophilized |
| Applications | SDS-PAGE; HPLC; Functional Studies |
| Key Features | Expression system: E.coli; Purity: > 95% SDS-PAGE; Endotoxin level: < 1.000 Eu/µg; Active: Yes; Suitable for: SDS-PAGE, HPLC, Functional Studies |
Protein Information
| UniProt ID | Q15465 |
|---|---|
| Molecular Weight | 20 kDa |
| Sequence | IVIGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKITRNSE RFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVK LRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFD WVYYESKAHIHCSVKAENSVAAKSGG |
| Sequence Similarities | Belongs to the hedgehog family. |
| Protein Length | Protein fragment |
| Cellular Localization | Cell membrane. The N-product either remains associated with lipid rafts at the cell surface, or forms freely diffusible active multimers with its hydrophobic lipid-modified N- and C-termini buried inside and Secreted > extracellular space. The C-terminal peptide diffuses from the cell. |
| Tissue Specificity | Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult tissues. |
| Function | Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the constitutive signaling activity of SMO. Also regulates another target, the gli oncogene. Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction. |
| Involvement in Disease | Defects in SHH are the cause of microphthalmia isolated with coloboma type 5 (MCOPCB5). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting fromthis product morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).Defects in SHH are the cause of holoprosencephaly type 3 (HPE3). Holoprosencephaly (HPE) is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of HPE3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. Interestingly, up to 30% of obligate carriers of HPE3 gene in autosomal dominant pedigrees are clinically unaffected.Defects in SHH are a cause of solitary median maxillary central incisor (SMMCI). SMMCI is a rare dental anomaly characterized by the congenital absence of one maxillary central incisor.Defects in SHH are the cause of triphalangeal thumb-polysyndactyly syndrome (TPTPS). TPTPS is an autosomal dominant syndrome characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. TPTPS mutations have been mapped to the 7q36 locus in the LMBR1 gene which contains in its intron 5 a long-range cis-regulatory element of SHH expression. |
| Post-translational Modifications | The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity.Cholesterylation is required for N-product targeting to lipid rafts and multimerization.N-palmitoylation of Cys-24 by HHAT is required for N-product multimerization and full activity. |
Storage & Shipping
| Shipping and Storage | Shipped at 4°C. Store at -20°C or -80°C. Avoid freeze / thaw cycle. Constituents: 0.33% Sodium phosphate, 0.87% Sodium chloride0.2 µm filtered This product is an active protein and may elicit a biological response in vivo, handle with caution. |
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For research use only. Not for clinical use.
