Protein sel-1 homolog 1 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, respon ...
that in humans is encoded by the ''SEL1L''
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 b ...
.
Clinical relevance
A mutation in this gene in
Finnish Hound
The Finnish Hound (suomenajokoira, Finnish Bracke) is a breed of dog originally bred for hunting hare and fox.
Description
Appearance
The nob of the Finnish Hound is short, dense and coarse to the touch. The coat pattern is tricolor with ta ...
dogs have been implicated in cases of
cerebellar ataxia
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.
Cerebellar ataxia can occur as a result of many diseases and may present with symptoms ...
.
Mutant cells suffer disruptions in their
endoplasmic reticula
The endoplasmic reticulum (ER) is, in essence, the transportation system of the eukaryotic cell, and has many other important functions such as protein folding. It is a type of organelle made up of two subunits – rough endoplasmic reticulum ( ...
, leading to disease.
References
Further reading
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