CRIPT

Chr 2AR

CXXC repeat containing interactor of PDZ3 domain

Also known as: HSPC139, RTS3, SSMDF

NCBI Gene: 9419 ENSG00000119878 UniProt: Q9P021 OMIM: 604594

CRIPT encodes a protein that anchors DLG4 in excitatory synapses and is involved in splicing of U12-type introns in pre-mRNAs as a component of the minor spliceosome. Autosomal recessive mutations cause Rothmund-Thomson syndrome type 3, characterized by short stature, microcephaly, and distinctive facial features. The gene shows tolerance to loss-of-function variants (pLI 0.001, LOEUF 1.58), suggesting the pathogenic variants may have residual function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

OMIM ResearchGenerating clinical summary…