Human CRTAP Recombinant Protein (RPPB3267)

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RPPB3267

Description

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Product Name:Human CRTAP Recombinant Protein
Product Code:RPPB3267
Size:10µg
Species:Human
Target:CRTAP
Synonyms:CASP, LEPREL3, OI7, Cartilage-associated protein, CRTAP.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The CRTAP solution (0.5mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.4M Urea and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 85% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSQYERYSF RSFPRDELMP LESAYRHALD KYSGEHWAES VGYLEISLRL HRLLRDSEAF CHRNCSAAPQ PEPAAGLASY PELRLFGGLL RRAHCLKRCK QGLPAFRQSQ PSREVLADFQ RREPYKFLQF AYFKANNLPK AIAAAHTFLL KHPDDEMMKR NMAYYKSLPG AEDYIKDLET KSYESLFIRA VRAYNGENWR TSITDMELAL PDFFKAFYEC LAACEGSREI KDFKDFYLSI ADHYVEVLEC KIQCEENLTP VIGGYPVEKF VATMYHYLQF AYYKLNDLKN AAPCAVSYLL FDQNDKVMQQ NLVYYQYHRD TWGLSDEHFQ PRPEAVQFFN VTTLQKELYD FAKENIMDDD EGEVVEYVDD LLELEETS

Cartilage-associated protein (CRTAP) is a secreted protein localizing to the extracellular space which takes part in collagen post-translational modifications, extracellular fibril assembly and intracellular trafficking. CRTAP which is mainly expressed with predominant expression in articular chondrocytes is essential for efficient 3-hydroxylation of fibrillar collagen prolyl residues. Mutations in the gene encoding CRTAP might cause to autosomal recessive osteogenesis imperfecta (OI) type 7 and type 2B.

CRTAP Human Recombinant produced in E. coli is. a single polypeptide chain containing 398 amino acids (27-401) and having a molecular mass of 46.4kDa. CRTAP is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:CRTAP: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. Defects in CRTAP are the cause of osteogenesis imperfecta type 7 (OI7). A connective tissue disorder characterized by short stature, short humeri and femora, coxa vara, white sclera, and the absence of dentinogenesis imperfecta. Multiple fractures are present at birth, and patients manifest moderate-severe bone fragility. Death may occurr in the perinatal period due to secondary respiratory insufficiency. Belongs to the leprecan family.
UniProt Protein Details:

Protein type:Extracellular matrix; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 3p22.3

Cellular Component: proteinaceous extracellular matrix; extracellular space; endoplasmic reticulum lumen; endoplasmic reticulum

Molecular Function:protein complex binding

Biological Process: extracellular matrix organization and biogenesis; protein stabilization; spermatogenesis; peptidyl-proline hydroxylation to 3-hydroxy-L-proline

Disease: Osteogenesis Imperfecta, Type Vii

NCBI Summary:The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
UniProt Code:O75718
NCBI GenInfo Identifier:17372894
NCBI Gene ID:10491
NCBI Accession:O75718.1
UniProt Related Accession:O75718
Molecular Weight:46562
NCBI Full Name:Cartilage-associated protein
NCBI Synonym Full Names:cartilage associated protein
NCBI Official Symbol:CRTAP��
NCBI Official Synonym Symbols:OI7; CASP; P3H5; LEPREL3��
NCBI Protein Information:cartilage-associated protein
UniProt Protein Name:Cartilage-associated protein
Protein Family:Cartilage-associated protein
UniProt Gene Name:CRTAP��
UniProt Entry Name:CRTAP_HUMAN
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Additional Information

Product Type:
Recombinant Protein
Species:
Human
Uniprot:
O75718
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