QuickView for APRT;jsessionid=40F8AF1766DC5EB78A41DCA4FBD1EACC (gene)

Gene Symbol:

APRT Homo sapiens

Full name:

adenine phosphoribosyltransferase

Synonyms:

AMP, APRTD, adenine phosphoribosyltransferase, AMP diphosphorylase, AMP pyrophosphorylase, transphosphoribosidase

Genomic Location:

Chr 16: 87403378-87405843

Description:

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of t...

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Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGCGGR_SP1_Q6

Cytogenetic Map:

16q24.3

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