FER1L5

Chr 2

fer-1 like family member 5

NCBI Gene: 90342 ENSG00000249715 UniProt: A0AVI2

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.

ResearchSummary from RefSeq, UniProt

Predicted to enable calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Predicted to be located in plasma membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)