FEB11

Chr 8AR

carboxypeptidase A6

Also known as: CPAH, ETL5, FEB11

The protein is a metallocarboxypeptidase that cleaves large hydrophobic C-terminal amino acids from peptides, functioning in both digestion and neuroendocrine peptide processing. Mutations cause familial febrile seizures type 11, which follows autosomal recessive inheritance. The gene has also been associated with Duane retraction syndrome through chromosomal translocation.

Summary from RefSeq, OMIM
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Primary Disease Associations & Inheritance

Febrile seizures, familial, 11MIM #614418
AR
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FEB11?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FEB11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found