Spatacsin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''SPG11''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
Spatacsin, in combination with the SPG15 protein, attaches the
AP5 adaptor complex
Clathrin adaptor proteins, also known as adaptins, are vesicular transport adaptor proteins associated with clathrin. These proteins are synthesized in the ribosomes, processed in the endoplasmic reticulum and transported from the Golgi apparatu ...
to the outside of late
Endosome
Endosomes are a collection of intracellular sorting organelles in eukaryotic cells. They are parts of endocytic membrane transport pathway originating from the trans Golgi network. Molecules or ligands internalized from the plasma membrane can ...
s or
Lysosome
A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane prot ...
s when the protein via which it binds is in a particular state.
Pathology
Mutations of the SPG11 gene cause a rare form of
spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness ( spasticity) and contraction in the lower limbs. HSP is also known as heredita ...
, spastic paraplegia type 11.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 11 SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum
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