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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
AP4M1 Resources | ||
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Contributors: Prab R. Tumpati, MD