Protein sel-1 homolog 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SEL1L''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Clinical relevance
A mutation in this gene in
Finnish Hound
The Finnish Hound ( Finnish: ''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 tr ...
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 a part of a transportation system of the eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for "little n ...
, leading to disease.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-14-stub