GALT cdna clone

GALT

Cat. Num. AAA200522

• Synonyms: GALT; GALT cdna clone

• Form/Format: Lyophilized
• Sequence: Nucleotide Sequence: ATGTCGCGCA GTGGAACCGA TCCTCAGCAA CGCCAGCAGG CGTCAGAGGC GGACGCCGCA GCAGCAACCT TCCGGGCAAA CGACCATCAG CATATCCGCT ACAACCCGCT GCAGGATGAG TGGGTGCTGG TGTCAGCTCA CCGCATGAAG CGGCCCTGGC AGGGTCAAGT GGAGCCCCAG CTTCTGAAGA CAGTGCCCCG CCATGACCCT CTCAACCCTC TGTGTCCTGG GGCCATCCGA GCCAACGGAG AGGTGAATCC CCAGTACGAT AGCACCTTCC TGTTTGACAA CGACTTCCCA GCTCTGCAGC CTGATGCCCC CAGTCCAGGA CCCAGTGATC ATCCCCTTTT CCAAGCAAAG TCTGCTCGAG GAGTCTGTAA GGTCATGTGC TTCCACCCCT GGTCGGATGT AACGCTGCCA CTCATGTCGG TCCCTGAGAT CCGGGCTGTT GTTGATGCAT GGGCCTCAGT CACAGAGGAG CTGGGTGCCC AGTACCCTTG GGTGCAGATC TTTGAAAACA AAGGTGCCAT GATGGGCTGT TCTAACCCCC ACCCCCACTG CCAGGTATGG GCCAGCAGTT TCCTGCCAGA TATTGCCCAG CGTGAGGAGC GATCTCAGCA GGCCTATAAG AGTCAGCATG GAGAGCCCCT GCTAATGGAG TACAGCCGCC AGGAGCTACT CAGGAAGGAA CGTCTGGTCC TAACCAGTGA GCACTGGTTA GTACTGGTCC CCTTCTGGGC AACATGGCCC TACCAGACAC TGCTGCTGCC CCGTCGGCAT GTGCGGCGGC TACCTGAGCT GACCCCTGCT GAGCGTGATG ATCTAGCCTC CATCATGAAG AAGCTCTTGA CCAAGTATGA CAACCTCTTT GAGACGTCCT TTCCCTACTC CATGGGCTGG CATGGGGCTC CCACAGGATC AGAGGCTGGG GCCAACTGGA ACCATTGGCA GCTGCACGCT CATTACTACC CTCCGCTCCT GCGCTCTGCC ACTGTCCGGA AATTCATGGT TGGCTACGAA ATGCTTGCTC AGGCTCAGAG GGACCTCACC CCTGAGCAGG CTGCAGAGAG ACTAAGGGCA CTTCCTGAGG TTCATTACCA CCTGGGGCAG AAGGACAGGG AGACAGCAAC CATCGCCTGA; ; Translation Sequence: MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA LPEVHYHLGQ KDRETATIA
• Sequence Length: 379

• Species: Human
• Chromosome Location: 9q13
• OMIM Reference Number: 606999
• cDNA Size: 1140bp
• Vector Description: This shuttle vector contains the complete ORF. It is inseted BamH I to Hind III. The gene insert contains multiple cloning sites which can be used to easily cut and transfer the gene and recombination site into your expression vector.
• Vector: (puc19-derived cloning vector)
• Preparation Before Usage: 1. Centrifuge at 7000rpm for 1 minute. 2. Carefully open the vial and add 100ul of sterile water to dissolve the DNA. Each tube contains approximately 10ug of lyophilized plasmid.
• Preparation and Storage: Store the plasmid at -20 degree C.

Related Product Information for GALT cdna clone

GALT catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of uDP-glucose + galactose-1-phosphate to glucose-1-phosphate + uDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene.

Product Categories/Family for GALT cdna clone

Metabolism

NCBI and Uniprot Product Information

• NCBI GI #: 22165416
• NCBI GeneID: 2592
• NCBI Accession #: NP_000146.2
• NCBI GenBank Nucleotide #: NM_000155.3
• UniProt Accession #: P07902
• NCBI Official Full Name: galactose-1-phosphate uridylyltransferase isoform 1
• NCBI Official Synonym Full Names: galactose-1-phosphate uridylyltransferase
• NCBI Official Symbol: GALT
• NCBI Protein Information: galactose-1-phosphate uridylyltransferase
• UniProt Protein Name: Galactose-1-phosphate uridylyltransferase
• Protein Family: Gallate transporter
• UniProt Gene Name: GALT
• UniProt Synonym Gene Names: Gal-1-P uridylyltransferase
• UniProt Entry Name: GALT_HUMAN

NCBI Description

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Uniprot Description

GALT: Defects in GALT are the cause of galactosemia (GALCT). Galactosemia is an inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.

Protein type: Motility/polarity/chemotaxis; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 2.7.7.12; Carbohydrate Metabolism - galactose; Transferase

Chromosomal Location of Human Ortholog: 9p13

Cellular Component: Golgi apparatus; cytosol

Molecular Function: zinc ion binding; UDP-glucose:hexose-1-phosphate uridylyltransferase activity

Biological Process: galactose catabolic process; carbohydrate metabolic process; UDP-glucose catabolic process; galactose metabolic process; pathogenesis

Disease: Galactosemia