PPIL1

Chr 6

peptidylprolyl isomerase like 1

Also known as: CGI-124, CYPL1, PCH14, PPIase, hCyPX

NCBI Gene: 51645 ENSG00000137168 UniProt: Q9Y3C6

This peptidylprolyl isomerase functions as a component of the spliceosome in pre-mRNA splicing and catalyzes the cis-trans isomerization of proline imidic peptide bonds, playing an important role in embryonic brain development. Mutations cause pontocerebellar hypoplasia type 14, a severe early-onset neurodevelopmental disorder affecting the brainstem and cerebellum. The condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 14

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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