Inosine triphosphate pyrophosphatase (ITPA) (NM_001267623) Human Untagged Clone

Specifications

Product Data
Type	Human Untagged Clone
Tag	Tag Free
Synonyms	C20orf37; DEE35; dJ794I6.3; HLC14-06-P; ITPase; My049; NTPase
Vector	pCMV6-Entry
Sequence Data	Fully Sequenced ORF (showhide) >SC330776 representing NM_001267623. Blue=Insert sequence Red=Cloning site Green=Tag(s) ATGGCGGCCTCATTGGTGGGGAAGAAGATCGTGTTTGTAACGGGGAACGCCAAGAAGCTGGAGGAGGTA CAGGGGCCCGTGCTGGTTGAGGACACTTGTCTGTGCTTCAATGCCCTTGGAGGGCTCCCCGGCCCCTAC ATAAAGTGGTTTCTGGAGAAGTTAAAGCCTGAAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAG TCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGG GGCCGGACCTCGGGCCGGATCGTGGCACCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAG CCTGATGGATATGAGCAGACGTACGCAGAGATGCCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTC CGGGCCCTGCTGGAGCTGCAGGAGTACTTTGGCAGTTTGGCAGCTTGA
Restriction Sites	SgfI-MluI
ACCN	NM_001267623
Insert Size	462 bp
OTI Disclaimer	Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components	The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
Reconstitution	1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.
Reference Data
RefSeq	NM_001267623.1
RefSeq Size	1079 bp
RefSeq ORF	462 bp
Locus ID	3704
UniProt ID	Q9BY32
Protein Families	Druggable Genome
Protein Pathways	Drug metabolism - other enzymes, Metabolic pathways, Purine metabolism, Pyrimidine metabolism
MW	16.8 kDa
Gene Summary	This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform 1.

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