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Gene

IMPDH1

inosine monophosphate dehydrogenase 1

Summary

Cytogenetic location
7q32.1
Coordinates
Chromosome 7: 128,392,277–128,409,982 (GRCh38)
Exons
17 exons across 17.7 kb
Protein
599 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
sWSS2608, LCA11
Previous symbols
RP10
MANE Select transcript
ENST00000338791.11NM_000883.4
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 reports relevant to this gene

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

  • Retinitis Pigmentosa

    • IMPDH1-Related RetinopathyAutosomal dominant

      A retinal dystrophy caused by changes in the IMPDH1 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
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 IMPDH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where IMPDH1 sits. IMPDH1 and 16 genes near it on chromosome 7, from 127,901,130 to 128,901,129.Chromosome 77q32.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3128 Mb128.2 Mb128.4 Mb128.6 Mb128.8 MbSND1: 127,652,123–128,092,609, forward strandSND1LRRC4: 127,938,259–128,032,280, reverse strandLRRC4LEP: 128,241,222–128,257,629, forward strandLEPRBM28: 128,278,493–128,343,971, reverse strandRBM28PRRT4: 128,350,325–128,361,940, reverse strandPRRT4IMPDH1: 128,392,277–128,409,982, reverse strandIMPDH1HILPDA: 128,455,825–128,458,423, forward strandHILPDAMETTL2B: 128,476,729–128,506,602, forward strandMETTL2BGARIN1A: 128,671,693–128,687,877, forward strandGARIN1AGARIN1B: 128,709,061–128,731,743, forward strandGARIN1BCALU: 128,739,292–128,773,400, forward strandCALUOPN1SW: 128,771,755–128,775,794, reverse strandOPN1SWCCDC136: 128,790,750–128,822,135, forward strandCCDC136FLNC: 128,830,292–128,859,275, forward strandFLNCKCP: 128,862,042–128,910,719, reverse strandKCPATP6V1F: 128,862,816–128,865,849, forward strandATP6V1FSPMIP1: 128,866,330–128,872,047, forward strandSPMIP1Diagram of IMPDH1: 17 exons on the reverse strand of chromosome 7Exon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 17: 128,392,277–128,393,028, 752 basesExon 16: 128,394,278–128,394,361, 84 basesExon 15: 128,394,456–128,394,599, 144 basesExon 14: 128,394,889–128,395,033, 145 basesExon 13: 128,395,131–128,395,274, 144 basesExon 12: 128,396,600–128,396,695, 96 basesExon 11: 128,396,932–128,397,022, 91 basesExon 10: 128,398,414–128,398,613, 200 basesExon 9: 128,400,095–128,400,182, 88 basesExon 8: 128,400,333–128,400,539, 207 basesExon 7: 128,400,817–128,400,891, 75 basesExon 6: 128,401,015–128,401,116, 102 basesExon 5: 128,403,706–128,403,754, 49 basesExon 4: 128,405,767–128,405,865, 99 basesExon 3: 128,409,289–128,409,352, 64 basesExon 2: 128,409,441–128,409,484, 44 basesExon 1: 128,409,756–128,409,982, 227 bases1716141210864215′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 2.6 kb of the gene's 17.7 kb; 1,800 of those bases code for the protein.

How a genome test reads IMPDH1

16

positions in IMPDH1 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 17.7 kb of IMPDH1, introns included, not only the 2.6 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.). IMPDH1 gene: inosine monophosphate dehydrogenase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/impdh1

Vancouver

Dante Labs. IMPDH1 gene: inosine monophosphate dehydrogenase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/impdh1

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