AP4M1

AP4M1 is a gene that provides instructions for making a protein that is part of a complex known as adaptor protein complex 4 (AP-4). This complex plays a critical role in the cell, particularly in the transport of proteins. The AP4M1 protein is one of four proteins that make up the AP-4 complex. The other three proteins are produced from the AP4E1, AP4B1, and AP4S1 genes.

Function

The AP4M1 gene provides instructions for making a protein that is part of a complex known as adaptor protein complex 4 (AP-4). This complex plays a critical role in the cell, particularly in the transport of proteins. The AP4M1 protein is one of four proteins that make up the AP-4 complex. The other three proteins are produced from the AP4E1, AP4B1, and AP4S1 genes.

Clinical significance

Mutations in the AP4M1 gene have been associated with autosomal recessive spastic paraplegia type 50 (SPG50), a disorder characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). These mutations prevent the production of the AP4M1 protein or lead to the production of an AP4M1 protein with reduced or absent function.

See also

• Adaptor protein
• Spastic paraplegia

References

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External links

• NCBI Gene
• Genetics Home Reference