Zebrafish gene: cpa6

Human gene: CPA6 (carboxypeptidase A6)

Homology score: 74%

ClinVar variants: 1

Gene description: Exhibits carboxypeptidase activity. Predicted to be involved in proteolysis. Predicted to localize to extracellular space. Is expressed in several structures, including head; pectoral fin; pectoral fin bud; segmental plate; and tail bud. Human ortholog(s) of this gene implicated in familial febrile seizures 11 and familial temporal lobe epilepsy 5. Orthologous to human CPA6 (carboxypeptidase A6).

ZFIN link: https://zfin.org/ZDB-GENE-091204-331

Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000012013;r=24:18880254-18919649;t=ENSDART00000106188

Zebrafish reference(s): n/a

Sequences: 

This gene has 4 transcripts (splice variants).

Guide RNA target sites: n/a

Primers:

Forward primer: gacaatgtaggccagaataggc

Reverse primer: CAGTTGAAGTTTGGTATAGTGGC

Kaplan-Maier Survival Plot

EEG scoring distribution

N = 99

Representative mutant EEG