Biomarkers

VLDL R

Recombinant ID:

3582

Gene of Interest

Gene Synonyms:

VLDLR

Protein Names:

Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)

Accession Data

Organism:

Homo sapiens (Human)

Mass (kDa):

96098

Length (aa):

873

Metal Binding:

Pending Verification

Proteomics (Proteome ID):

Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)

Proteomics (Chromosome):

UP000005640

Disease:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1) [MIM:224050]: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures. {ECO:0000269|PubMed:16080122}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis:

MUTAGEN 825 825 K->R: Insensitive to MYLIP-triggered degradation; when associated with R-828 and R-839. {ECO:0000269|PubMed:20427281}.; MUTAGEN 828 828 K->R: Insensitive to MYLIP-triggered degradation; when associated with R-825 and R-839. {ECO:0000269|PubMed:20427281}.; MUTAGEN 839 839 K->R: Insensitive to MYLIP-triggered degradation. Insensitive to MYLIP-triggered degradation; when associated with R-825 and R-828. {ECO:0000269|PubMed:20427281}.

Sequence:

MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGIRDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQWPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQPSGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGINVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA

Function [CC]:

Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity). {ECO:0000250}.

Analysis Summary:

Active site (3); Beta strand (18); Chain (3); Disulfide bond (6); Glycosylation (1); Helix (13); Modified residue (1); Natural variant (4); Propeptide (2); Sequence conflict (1); Signal peptide (1); Turn (4); Expressed in the stratum spinosum of the epidermis. Weak expression is detected in the stratum granulosum. {ECO:0000269|PubMed:28457472}.

Reagent Data

Name:

Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)

Subcategory:

Recombinant

Source:

HEK293

Species:

Format:

Lyophilized

pH:

7.4-7.5

Formulation:

Sterile-filtered colorless solution

Formulation Concentration:

1mg/ml

Buffer Volume:

Standard

Buffer Solution:

PBS

Metal Chelating Agents

Determined:

SDS-PAGE

Purity:

> 98%

Validated:

RP-HPLC

Sample Handling

Storage:

-20°C

Stability:

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Preparation:

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.

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