GNPTAB (AL359588) Human Untagged Clone
CAT#: SC312443
(untagged)-Human mRNA, cDNA DKFZp762B226 (from clone DKFZp762B226)
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Specifications
Product Data | |
Type | Human Untagged Clone |
Tag | Tag Free |
Symbol | GNPTAB |
Synonyms | GNPTA|ICD |
Vector | pCMV6 series |
Sequence Data |
>NCBI ORF sequence for AL359588, the custom clone sequence may differ by one or more nucleotides
|
Restriction Sites | Please inquire |
ACCN | AL359588 |
ORF Size | 2428 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). |
OTI Annotation | This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA. |
Reference Data | |
RefSeq | AL359588.1, CAB94874.1 |
RefSeq Size | 2428 |
RefSeq ORF | 2428 |
Locus ID | 79158 |
Protein Families | Transmembrane |
Protein Pathways | Lysosome |
Gene Summary | This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA. [provided by RefSeq, May 2010] |
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