FER1L5
Chr 2fer-1 like family member 5
The FER1L5 protein binds calcium ions and regulates neurotransmitter secretion at synaptic vesicle membranes, while also playing crucial roles in male fertility through the acrosome reaction and in skeletal muscle development through myoblast fusion and membrane repair. Mutations in FER1L5 cause autosomal recessive limb-girdle muscular dystrophy type 2X, which involves progressive weakness of the shoulder and hip girdle muscles. This condition follows an autosomal recessive inheritance pattern.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FER1L5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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Links to major genomics databases and tools