Aliases:
Chromosome No: 4
Chromosome Band: 4p16.1
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 9
Evidence score: 2
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Relevance to Autism
De novo damaging missense variants (defined by CADD score 25) in the CPZ gene were identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (De Rubeis et al., 2014; Iossifov et al., 2014), while a third de novo damaging missense variant in this gene was observed in an ASD proband from the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified CPZ as an ASD candidate gene with a q-value 0.1.
Molecular Function
This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases.
External Links
