FH (NM_000143) Human Mutant ORF Clone

Specifications

Product Data
Product Name	FH (NM_000143) Human Mutant ORF Clone
Mutation Description	R343X
Affected Codon#	343
Affected NT#	1027
Nucleotide Mutation	FH Mutant (R343X), Myc-DDK-tagged ORF clone of Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein as transfection-ready DNA
Effect	Muliple leiomyomosis
Synonyms	FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000143
ORF Size	1026 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC401115 representing NM_000143 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGTACCGAGCACTTCGGCTCCTCGCGCGCTCGCGTCCCCTCGTGCGGGCTCCAGCCGCAGCCTTAGCTT CGGCTCCCGGCTTGGGTGGCGCGGCCGTGCCCTCGTTTTGGCCTCCGAACGCGGCTCGAATGGCAAGCCA AAATTCCTTCCGGATAGAATATGATACCTTTGGTGAACTAAAGGTGCCAAATGATAAGTATTATGGCGCC CAGACCGTGAGATCTACGATGAACTTTAAGATTGGAGGTGTGACAGAACGCATGCCAACCCCAGTTATTA AAGCTTTTGGCATCTTGAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGATTGC TAATGCAATAATGAAGGCAGCAGATGAGGTAGCTGAAGGTAAATTAAATGATCATTTTCCTCTCGTGGTA TGGCAGACTGGATCAGGAACTCAGACAAATATGAATGTAAATGAAGTCATTAGCAATAGAGCAATTGAAA TGTTAGGAGGTGAACTTGGCAGCAAGATACCTGTGCATCCCAACGATCATGTTAATAAAAGCCAGAGCTC AAATGATACTTTTCCCACAGCAATGCACATTGCTGCTGCAATAGAAGTTCATGAAGTACTGTTACCAGGA CTACAGAAGTTACATGATGCTCTTGATGCAAAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTA CTCATACTCAGGATGCTGTTCCACTTACTCTTGGGCAGGAATTTAGTGGTTATGTTCAACAAGTAAAATA TGCAATGACAAGAATAAAAGCTGCCATGCCAAGAATCTATGAGCTCGCAGCTGGAGGCACTGCTGTTGGT ACAGGTTTAAATACTAGAATTGGCTTTGCAGAAAAGGTTGCTGCAAAAGTGGCTGCACTTACAGGCTTGC CTTTTGTCACTGCTCCGAATAAATTTGAAGCTCTGGCTGCTCATGACGCTCTGGTTGAGCTCAGTGGAGC CATGAACACTACTGCCTGCAGTCTGATGAAGATAGCAAATGATATT AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC401115 representing NM_000143 Red=Cloning site Green=Tags(s) MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGELKVPNDKYYGA QTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVV WQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPG LQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVG TGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDI SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_000134
RefSeq Size	1026 bp
RefSeq ORF	1533 bp
Locus ID	2271
Domains	lyase_1
Protein Families	Druggable Genome
Protein Pathways	Citrate cycle (TCA cycle), Metabolic pathways, Pathways in cancer, Renal cell carcinoma
MW	37.6 kDa
Gene Summary	The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]

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