ZFYVE26

ZFYVE26 is a human gene that encodes a protein known as zinc finger FYVE domain-containing protein 26. This protein is involved in the regulation of membrane trafficking and autophagy, a process that cells use to break down and recycle parts of themselves. Mutations in the ZFYVE26 gene have been associated with a rare neurological disorder known as Spastic paraplegia 15 (SPG15).

Function

The ZFYVE26 protein is a component of the endosomal sorting complex required for transport (ESCRT) machinery, which is involved in the degradation of surface proteins. It is also involved in the formation of multivesicular bodies (MVBs), which are involved in protein sorting and trafficking.

Clinical significance

Mutations in the ZFYVE26 gene cause Spastic paraplegia 15, a form of hereditary spastic paraplegia. This disorder is characterized by progressive weakness and stiffness of the legs, often accompanied by other neurological symptoms such as dementia, ataxia, and optic atrophy. The disease is inherited in an autosomal recessive manner.

Research

Research into the ZFYVE26 gene and its associated protein may provide insights into the mechanisms of membrane trafficking and autophagy, and may lead to new treatments for disorders such as Spastic paraplegia 15.

File:ZFYVE26 gene location on human chromosome 14.png

Location of the ZFYVE26 gene on human chromosome 14.

See also

• Zinc finger
• FYVE domain
• Spastic paraplegia
• Autophagy
• Membrane trafficking

References

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