CRPPA

Chr 7

CDP-L-ribitol pyrophosphorylase A

Also known as: ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD

NCBI Gene: 729920 ENSG00000214960 UniProt: A4D126

This gene encodes a cytidylyltransferase that catalyzes the formation of CDP-ribitol, which is essential for protein O-linked mannosylation and proper functioning of alpha-dystroglycan in binding extracellular matrix proteins. Mutations cause muscular dystrophy-dystroglycanopathy with either severe congenital presentation including brain and eye anomalies (Walker-Warburg syndrome) or milder limb-girdle muscular dystrophy. The condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7

UniProtMuscular dystrophy-dystroglycanopathy limb-girdle C7

Clinical highlights

Gene-disease validity (ClinGen)

myopathy caused by variation in CRPPA · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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