Human RLBP1 Recombinant Protein (RPPB4470)

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SKU:
RPPB4470
Product type:
Recombinant Protein
Size:
20ug
Species:
Human
Target:
RLBP1
Synonyms:
Retinaldehyde Binding Protein 1
Synonyms:
Cellular Retinaldehyde-Binding Protein
Synonyms:
CRALBP
Source:
Escherichia Coli
Uniprot:
P12271
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Description

Product Name:Human RLBP1 Recombinant Protein
Product Code:RPPB4470
Size:20µg
Species:Human
Target:RLBP1
Synonyms:Retinaldehyde Binding Protein 1, Cellular Retinaldehyde-Binding Protein, CRALBP.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The RLBP1 solution (1mg/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 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMSEGVGT FRMVPEEEQE LRAQLEQLTT KDHGPVFGPC SQLPRHTLQK AKDELNEREE TREEAVRELQ EMVQAQAASG EELAVAVAER VQEKDSGFFL RFIRARKFNV GRAYELLRGY VNFRLQYPEL FDSLSPEAVR CTIEAGYPGV LSSRDKYGRV VMLFNIENWQ SQEITFDEIL QAYCFILEKL LENEETQING FCIIENFKGF TMQQAASLRT SDLRKMVDML QDSFPARFKA IHFIHQPWYF TTTYNVVKPF LKSKLLERVF VHGDDLSGFY QEIDENILPS DFGGTLPKYD GKAVAEQLFG PQAQAENTAF

RLBP1 is a 36-kD water-soluble protein that transports 11-cis-retinal or 11-cis-retinaldehyde as physiologic ligands. RLBP1 is a functional element of the visual cycle. RLBP1 gene mutations cause retinitis punctata albescens, severe rod-cone dystrophy and Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa).

RLBP1 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 340 amino acids (1-317) and having a molecular mass of 38.9 kDa. RLBP1 is fused to a 23 amino acid His-tag at N-terminus.

UniProt Protein Function:RLBP1: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'. Defects in RLBP1 are a cause of retinitis pigmentosa autosomal recessive (ARRP). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in RLBP1 are the cause of Bothnia retinal dystrophy (BRD); also known as Vasterbotten dystrophy. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. Defects in RLBP1 are the cause of rod-cone dystrophy Newfoundland (NFRCD). NFRCD is a retinal dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. Defects in RLBP1 are a cause of retinitis punctata albescens (RPA). A rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 15q26

Cellular Component: cytosol

Biological Process: retinoid metabolic process; vitamin A metabolic process

Disease: Bothnia Retinal Dystrophy; Fundus Albipunctatus; Newfoundland Rod-cone Dystrophy

NCBI Summary:The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
UniProt Code:P12271
NCBI GenInfo Identifier:117391
NCBI Gene ID:6017
NCBI Accession:P12271.2
UniProt Secondary Accession:P12271,B2R667,
UniProt Related Accession:P12271
Molecular Weight:36,474 Da
NCBI Full Name:Retinaldehyde-binding protein 1
NCBI Synonym Full Names:retinaldehyde binding protein 1
NCBI Official Symbol:RLBP1  
NCBI Official Synonym Symbols:CRALBP  
NCBI Protein Information:retinaldehyde-binding protein 1
UniProt Protein Name:Retinaldehyde-binding protein 1
UniProt Synonym Protein Names:Cellular retinaldehyde-binding protein
Protein Family:Retinaldehyde-binding protein
UniProt Gene Name:RLBP1  
UniProt Entry Name:RLBP1_HUMAN
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