CRPPA

CRPPA
Identifiers
Aliases	CRPPA, MDDGA7, Nip, hCG_1745121, MDDGC7, isoprenoid synthase domain containing, hISPD, LGMDR20, CDP-L-ribitol pyrophosphorylase A, ISPD
External IDs	OMIM: 614631; MGI: 1923097; GeneCards: CRPPA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4CVH
Enzyme activity
Gene location (Human)
Chr.	Chromosome 7 (human)
End	16,502,504 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	36,739,502 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; testicle; ; Achilles tendon; ; gonad; ; skeletal muscle tissue; ; prefrontal cortex; ; stromal cell of endometrium; ; epithelium of colon; ; superior frontal gyrus; ; liver;
	Top expressed in
	lumbar spinal ganglion; ; facial motor nucleus; ; substantia nigra; ; right kidney; ; trigeminal ganglion; ; Epithelium of choroid plexus; ; embryo; ; dentate gyrus of hippocampal formation granule cell; ; neural layer of retina; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotidyltransferase activity; catalytic activity; protein homodimerization activity; D-ribitol-5-phosphate cytidylyltransferase activity; cytidylyltransferase activity;
Cellular component	cytoplasm; cytosol;
Biological process	protein glycosylation; protein O-linked mannosylation; isoprenoid biosynthetic process; axon guidance;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	729920
	75847
	ENSG00000214960
	ENSMUSG00000043153
	A4D126
	Q5RJG7
	NM_001101417; NM_001101426; NM_001368197
	NM_001289502; NM_001289503; NM_001289504; NM_178629; NM_001364305
	NP_001094887; NP_001094896; NP_001355126
	NP_001276431; NP_001276432; NP_001276433; NP_848744; NP_001351234
	Wikidata
View/Edit Human	View/Edit Mouse

CDP-L-Ribitol Pyrophosphorylase A is an enzyme encoded by CRPPA gene.^[5]

Gene

CRPPA is located on the short arm (p) of chromosome 7 on position 21.2, from base pair 16,087,525 to base pair 16,502,504.^[6]^[7]

Function

This enzyme is located in the cytoplasm, which synthesises CDP-ribitiol from CTP and Ribitol-5-P.^[8] CDP-ribitiol is used by FKRP and FKTN to glycosylate alpha-dystroglycan.^[8]

Clinical significance

Mutations in this gene can cause Limb-girdle muscular dystrophy, Muscle-eye-brain disease and Walker-Warburg syndrome.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000214960 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043153 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entry - *614631 - CDP-L-Ribitol Pyrophosphorylase a; Crppa - OMIM". omim.org. Archived from the original on 2025-03-04. Retrieved 2026-07-27.
↑ "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.
↑ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.
1 2 Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, et al. (May 2016). "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan". Nature Communications. 7 (1) 11534. doi:10.1038/ncomms11534. PMC 4873967. PMID 27194101.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000214960 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043153 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Entry_614631_CDP-5] 1 2 "Entry - *614631 - CDP-L-Ribitol Pyrophosphorylase a; Crppa - OMIM". omim.org. Archived from the original on 2025-03-04. Retrieved 2026-07-27.

[6] "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.

[7] "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.

[Gerin_2016-8] 1 2 Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, et al. (May 2016). "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan". Nature Communications. 7 (1) 11534. doi:10.1038/ncomms11534. PMC 4873967. PMID 27194101.

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