CWC27

CWC27 (CWC27 Spliceosome Associated Protein Homolog) is a Protein Coding gene. Diseases associated with CWC27 include Retinitis Pigmentosa With Or Without Skeletal Anomalies and Retinitis Pigmentosa. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPIL4.

Full Name

CWC27 Spliceosome Associated Protein Homolog

Function

As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106).

Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).

Biological Process

mRNA splicing, via spliceosome Source: Reactome
Protein folding Source: InterPro
Protein peptidyl-prolyl isomerization Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Retinitis pigmentosa with or without skeletal anomalies (RPSKA):
An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.