XPD (ERCC2) (NM_000400) Human Mutant ORF Clone

Specifications

Product Data
Product Name	XPD (ERCC2) (NM_000400) Human Mutant ORF Clone
Mutation Description	R658H
Affected Codon#	658
Affected NT#	1973
Nucleotide Mutation	ERCC2 Mutant (R658H), Myc-DDK-tagged ORF clone of Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1 as transfection-ready DNA
Effect	Trihohiodysrophy
Synonyms	COFS2; EM9; TFIIH; TTD; TTD1; XPD
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000400
ORF Size	2280 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC402017 representing NM_000400 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGAAGCTCAACGTGGACGGGCTCCTGGTCTACTTCCCGTACGACTACATCTACCCCGAGCAGTTCTCCT ACATGCGGGAGCTCAAACGCACGCTGGACGCCAAGGGTCATGGAGTCCTGGAGATGCCCTCAGGCACCGG GAAGACAGTATCCCTGTTGGCCCTGATCATGGCATACCAGAGAGCATATCCGCTGGAGGTGACCAAACTC ATCTACTGCTCAAGAACTGTGCCAGAGATTGAGAAGGTGATTGAAGAGCTTCGAAAGTTGCTCAACTTCT ATGAGAAGCAGGAGGGCGAGAAGCTGCCGTTTCTGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTAT TCACCCTGAGGTGACACCCCTGCGCTTTGGGAAGGACGTCGATGGGAAATGCCACAGCCTCACAGCCTCC TATGTGCGGGCGCAGTACCAGCATGACACCAGCCTGCCCCACTGCCGATTCTATGAGGAATTTGATGCCC ATGGGCGTGAGGTGCCCCTCCCCGCTGGCATCTACAACCTGGATGACCTGAAGGCCCTGGGGCGGCGCCA GGGCTGGTGCCCATACTTCCTTGCTCGATACTCAATCCTGCATGCCAATGTGGTGGTTTATAGCTACCAC TACCTCCTGGACCCCAAGATTGCAGACCTGGTGTCCAAGGAACTGGCCCGCAAGGCCGTCGTGGTCTTCG ACGAGGCCCACAACATTGACAACGTCTGCATCGACTCCATGAGCGTCAACCTCACCCGCCGGACCCTTGA CCGGTGCCAGGGCAACCTGGAGACCCTGCAGAAGACGGTGCTCAGGATCAAAGAGACAGACGAGCAGCGC CTGCGGGACGAGTACCGGCGTCTGGTGGAGGGGCTGCGGGAGGCCAGCGCCGCCCGGGAGACGGACGCCC ACCTGGCCAACCCCGTGCTGCCCGACGAAGTGCTGCAGGAGGCAGTGCCTGGCTCCATCCGCACGGCCGA GCATTTCCTGGGCTTCCTGAGGCGGCTGCTGGAGTACGTGAAGTGGCGGCTGCGTGTGCAGCATGTGGTG CAGGAGAGCCCGCCCGCCTTCCTGAGCGGCCTGGCCCAGCGCGTGTGCATCCAGCGCAAGCCCCTCAGAT TCTGTGCTGAACGCCTCCGGTCCCTGCTGCATACTCTGGAGATCACCGACCTTGCTGACTTCTCCCCGCT CACCCTCCTTGCTAACTTTGCCACCCTTGTCAGCACCTACGCCAAAGGCTTCACCATCATCATCGAGCCC TTTGACGACAGAACCCCGACCATTGCCAACCCCATCCTGCACTTCAGCTGCATGGACGCCTCGCTGGCCA TCAAACCCGTATTTGAGCGTTTCCAGTCTGTCATCATCACATCTGGGACACTGTCCCCGCTGGACATCTA CCCCAAGATCCTGGACTTCCACCCCGTCACCATGGCAACCTTCACCATGACGCTGGCACGGGTCTGCCTC TGCCCTATGATCATCGGCCGTGGCAATGACCAGGTGGCCATCAGCTCCAAATTTGAGACCCGGGAGGATA TTGCTGTGATCCGGAACTATGGGAACCTCCTGCTGGAGATGTCCGCTGTGGTCCCTGATGGCATCGTGGC CTTCTTCACCAGCTACCAGTACATGGAGAGCACCGTGGCCTCCTGGTATGAGCAGGGGATCCTTGAGAAC ATCCAGAGGAACAAGCTGCTCTTTATTGAGACCCAGGATGGTGCCGAAACCAGTGTCGCCCTGGAGAAGT ACCAGGAGGCCTGCGAGAATGGCCGCGGGGCCATCCTGCTGTCAGTGGCCCGGGGCAAAGTGTCCGAGGG AATCGACTTTGTGCACCACTACGGGCGGGCCGTCATCATGTTTGGCGTCCCCTACGTCTACACACAGAGC CGCATTCTCAAGGCGCGGCTGGAATACCTGCGGGACCAGTTCCAGATTCGTGAGAATGACTTTCTTACCT TCGATGCCATGCACCACGCGGCCCAGTGTGTGGGTCGGGCCATCAGGGGCAAGACGGACTACGGCCTCAT GGTCTTTGCCGACAAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGCTGCCCCGCTGGATCCAGGAGCAC CTCACAGATGCCAACCTCAACCTGACCGTGGACGAGGGTGTCCAGGTGGCCAAGTACTTCCTGCGGCAGA TGGCACAGCCCTTCCACCGGGAGGATCAGCTGGGCCTGTCCCTGCTCAGCCTGGAGCAGCTAGAATCAGA GGAGACGCTGAAGAGGATAGAGCAGATTGCTCAGCAGCTC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC402017 representing NM_000400 Red=Cloning site Green=Tags(s) MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKL IYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTAS YVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYH YLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQR LRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVV QESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCL CPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQS RILKARLEYLRDQFQIRENDFLTFDAMHHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEH LTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	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_000391
RefSeq Size	2280 bp
RefSeq ORF	2283 bp
Locus ID	2068
Domains	DEXDc2, HELICc2
Protein Families	Druggable Genome, Transcription Factors
Protein Pathways	Nucleotide excision repair
MW	83.6 kDa
Gene Summary	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

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