VPS33A
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Vacuolar protein sorting-associated protein 33A 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 ''VPS33A''
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

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway.


Interactions

VPS33A has been shown to
interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
VPS11 Vacuolar protein sorting-associated protein 11 homolog is a protein that in humans is encoded by the ''VPS11'' gene. Function Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct orga ...
.


Clinical

A syndrome has been described that appears to be associated with mutations in this gene.Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK (2016) A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. Clin Dysmorphol This syndrome has since been named Mucopolysaccharidosis-plus syndrome.Vasilev F, Sukhomyasova A, Otomo T (2020) Mucopolysaccharidosis-plus syndrome. Int J Mol Sci 21(2)


References


Further reading

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