Skip to content
Use your HSA or FSA funds

Gene

APRT

adenine phosphoribosyltransferase

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 88,809,339–88,811,928 (GRCh38)
Exons
5 exons across 2.6 kb
Protein
180 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000378364.8NM_000485.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Purine & Pyrimidine Metabolism Disorders

    • Adenine Phosphoribosyltransferase DeficiencyAutosomal recessive

      Caused by variants in APRT, which leads to 2,8-dihydroxyadenine kidney stones and crystal kidney damage that is often missed or misdiagnosed.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows treatment with allopurinol or febuxostat and high fluid intake, which can prevent kidney failure.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How APRT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where APRT sits. APRT and 20 genes near it on chromosome 16, from 88,310,634 to 89,310,633.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.388.4 Mb88.6 Mb88.8 Mb89 Mb89.2 MbZNF469: 88,382,959–88,440,757, forward strandZNF469ZFPM1: 88,453,208–88,537,031, forward strandZFPM1ZC3H18: 88,570,388–88,631,966, forward strandZC3H18IL17C: 88,638,571–88,640,468, forward strandIL17CCYBA: 88,643,275–88,651,083, reverse strandCYBAMVD: 88,651,934–88,663,166, reverse strandMVDSNAI3: 88,674,992–88,686,513, reverse strandSNAI3RNF166: 88,696,494–88,706,424, reverse strandRNF166CTU2: 88,706,470–88,717,853, forward strandCTU2PIEZO1: 88,715,338–88,785,251, reverse strandPIEZO1CDT1: 88,803,777–88,809,258, forward strandCDT1APRT: 88,809,339–88,811,928, reverse strandAPRTGALNS: 88,813,733–88,857,832, reverse strandGALNSTRAPPC2L: 88,856,220–88,862,686, forward strandTRAPPC2LPABPN1L: 88,863,333–88,866,660, reverse strandPABPN1LCBFA2T3: 88,874,858–88,977,207, reverse strandCBFA2T3ACSF3: 89,088,375–89,164,121, forward strandACSF3CDH15: 89,171,742–89,195,492, forward strandCDH15SLC22A31: 89,195,458–89,201,692, reverse strandSLC22A31ZNF778: 89,217,683–89,237,141, forward strandZNF778ANKRD11: 89,267,619–89,490,706, reverse strandANKRD11Diagram of APRT: 5 exons on the reverse strand of chromosome 16Exon 5: 7 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 5: 88,809,339–88,809,840, 502 basesExon 4: 88,810,070–88,810,148, 79 basesExon 3: 88,810,423–88,810,556, 134 basesExon 2: 88,811,550–88,811,656, 107 basesExon 1: 88,811,820–88,811,928, 109 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.9 kb of the gene's 2.6 kb; 543 of those bases code for the protein.

How a genome test reads APRT

38

positions in APRT where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.6 kb of APRT, introns included, not only the 0.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). APRT gene: adenine phosphoribosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/aprt

Vancouver

Dante Labs. APRT gene: adenine phosphoribosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aprt

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test