Adenine phosphoribosyltransferase

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Adenine phosphoribosyltransferase
Adenine phosphoribosyltransferase 1ZN7.png
Ribbon diagram of a human APRT dimer, in complex with PRPP, adenine and ribose 5-phosphate. One magnesium ion visible in green. From PDB 1ZN7.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols APRT ; AMP; APRTD
External IDs OMIM102600 MGI88061 HomoloGene413 GeneCards: APRT Gene
EC number 2.4.2.7
RNA expression pattern
PBB GE APRT 213892 s at tn.png
PBB GE APRT 203219 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 353 11821
Ensembl ENSG00000198931 ENSMUSG00000006589
UniProt P07741 P08030
RefSeq (mRNA) NM_000485 NM_009698
RefSeq (protein) NP_000476 NP_033828
Location (UCSC) Chr 16:
88.88 – 88.88 Mb
Chr 8:
122.57 – 122.58 Mb
PubMed search [1] [2]

Adenine phosphoribosyltransferase is an enzyme that in humans is encoded by the APRT gene.[1]

Function[edit]

APRTase is an enzyme involved in the purine nucleotide salvage pathway. It functions as a catalyst in the reaction between adenine and phosphoribosyl pyrophosphate (PRPP) to form AMP.

APRT is functionally related to hypoxanthine-guanine phosphoribosyltransferase (HPRT).

Pathology[edit]

Deficiency of APRT in human beings may lead to kidney stones formed of adenine and salts.

2,8-Dihydroxy-adenine urolithiasis is also known as "adenine phosphoribosyltransferase deficiency".

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down purines. This may result in the accumulation 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury.[1]

Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.

References[edit]

Further reading[edit]

External links[edit]