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Gene

CRPPA

CDP-L-ribitol pyrophosphorylase A

Summary

Cytogenetic location
7p21.2
Coordinates
Chromosome 7: 16,087,525–16,421,538 (GRCh38)
Exons
10 exons across 334 kb
Protein
451 amino acids
Inheritance
Autosomal recessive
Also known as
hCG_1745121, IspD, Nip
Previous symbols
ISPD
MANE Select transcript
ENST00000407010.7NM_001101426.4
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

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 3 GenCC submitters rate it definitive or strong

  • Congenital Disorders of Glycosylation

    • Alpha-DystroglycanopathiesAutosomal recessive

      Muscle diseases caused by faulty sugar attachment (O-mannosylation) to alpha-dystroglycan, ranging from severe congenital muscular dystrophy with brain and eye involvement to milder limb-girdle weakness; also covered in more detail in the Congenital Muscular Dystrophies report.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

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

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 CRPPA 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 CRPPA sits. CRPPA and 5 genes near it on chromosome 7, from 15,753,511 to 16,755,552.Chromosome 77p21.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.315.8 Mb16 Mb16.2 Mb16.4 Mb16.6 MbCRPPA: 16,087,525–16,421,538, reverse strandCRPPASOSTDC1: 16,460,622–16,530,580, reverse strandSOSTDC1LRRC72: 16,526,825–16,581,568, forward strandLRRC72ANKMY2: 16,599,779–16,645,841, reverse strandANKMY2BZW2: 16,644,653–16,706,771, forward strandBZW2TSPAN13: 16,753,727–16,784,652, forward strandTSPAN13Diagram of CRPPA: 10 exons on the reverse strand of chromosome 7Exon 9: 4 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 8 known disease-causing sitesExon 10: 16,087,525–16,091,799, 4,275 basesExon 9: 16,216,066–16,216,197, 132 basesExon 8: 16,258,390–16,258,482, 93 basesExon 7: 16,258,920–16,259,012, 93 basesExon 6: 16,278,129–16,278,226, 98 basesExon 5: 16,301,421–16,301,466, 46 basesExon 4: 16,308,523–16,308,627, 105 basesExon 3: 16,376,092–16,376,241, 150 basesExon 2: 16,406,061–16,406,337, 277 basesExon 1: 16,421,066–16,421,538, 473 bases10864215′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 5.7 kb of the gene's 334 kb; 1,356 of those bases code for the protein.

How a genome test reads CRPPA

40

positions in CRPPA 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 334 kb of CRPPA, introns included, not only the 5.7 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.). CRPPA gene: CDP-L-ribitol pyrophosphorylase A. Retrieved 17 October 2026, from https://dantelabs.com/genes/crppa

Vancouver

Dante Labs. CRPPA gene: CDP-L-ribitol pyrophosphorylase A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/crppa

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