Human LMX1B Recombinant Protein (RPPB3871)

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SKU:
RPPB3871
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
O60663

Description

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Product Name:Human LMX1B Recombinant Protein
Product Code:RPPB3871
Size:20µg
Species:Human
Target:LMX1B
Synonyms:LIM homeobox transcription factor 1, beta, LMX1.2, NPS1, LIM/homeobox protein 1.2, LIM/homeobox protein LMX1B, LMX1B.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:LMX1B protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 10% glycerol and 0.4M Urea.
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 80.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMDIATGP ESLERCFPRG QTDCAKMLDG IKMEEHALRP GPATLGVLLG SDCPHPAVCE GCQRPISDRF LMRVNESSWH EECLQCAACQ QALTTSCYFR DRKLYCKQDY QQLFAAKCSG CMEKIAPTEF VMRALECVYH LGCFCCCVCE RQLRKGDEFV LKEGQLLCKG DYEKEKDLLS SVSPDESDSV KSEDEDGDMK PAKGQGSQSK GSGDDGKDPR RPKRPRTILT TQQRRAFKAS FEVSSKPCRK VRETLAAETG LSVRVVQVWF QNQRAKMKKL ARRHQQQQEQ QNSQRLGQEV LSSRMEGMMA SYTPLAPPQQ QIVAMEQSPY GSSDPFQQGL TPPQMPGNDS IFHDIDSDTS LTSLSDCFLG SSDVGSLQAR VGNPIDRLYS MQSSYFAS

LIM Homeobox Transcription Factor 1, Beta (LMX1B) is a part of LIM-homeodomain family of proteins which consists of 2 N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. LMX1B plays a role as a transcription factor and is necessary for the specification of dorsal limb fate at the zeugopodal and autopodal levels. Mutations in LMX1B are associated with nailpatella syndrome.

LMX1B Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 418 amino acids (1-395a.a) and having a molecular mass of 46.5kDa. LMX1B is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:LMX1B: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. Defects in LMX1B are the cause of nail-patella syndrome (NPS); also known as onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Cell development/differentiation; DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 9q33.3

Cellular Component: nucleus

Molecular Function:protein binding; zinc ion binding; sequence-specific DNA binding; transcription factor activity

Biological Process: collagen fibril organization; transcription, DNA-dependent; in utero embryonic development; multicellular organismal development; neuron migration; cerebellum morphogenesis; limb morphogenesis; neuron differentiation; cell proliferation; organ growth; regulation of transcription, DNA-dependent; dorsal/ventral pattern formation; midbrain development; positive regulation of transcription from RNA polymerase II promoter; central nervous system neuron development

Disease: Nail-patella Syndrome

NCBI Summary:This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
UniProt Code:O60663
NCBI GenInfo Identifier:485956425
NCBI Gene ID:4010
NCBI Accession:O60663.3
UniProt Secondary Accession:O60663,O75463, Q5JU95, Q6ISC9, F8W7W6,
UniProt Related Accession:O60663
Molecular Weight:402
NCBI Full Name:LIM homeobox transcription factor 1-beta
NCBI Synonym Full Names:LIM homeobox transcription factor 1, beta
NCBI Official Symbol:LMX1B��
NCBI Official Synonym Symbols:NPS1; LMX1.2��
NCBI Protein Information:LIM homeobox transcription factor 1-beta; LMX-1.2; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B
UniProt Protein Name:LIM homeobox transcription factor 1-beta
UniProt Synonym Protein Names:LIM/homeobox protein 1.2; LMX-1.2; LIM/homeobox protein LMX1B
Protein Family:LIM/homeobox protein
UniProt Gene Name:LMX1B��
UniProt Entry Name:LMX1B_HUMAN
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