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Ataxin is a type of
nuclear protein. The
class is
called ataxin because mutated forms of
these proteins and
their corresponding genes were
found to cause...
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Ataxin-1 is a DNA-binding
protein which in
humans is
encoded by the ATXN1 gene.
Mutations in
ataxin-1
cause spinocerebellar ataxia type 1, an inherited...
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Ataxin-7 (ATXN7) is a
protein of the SCA7 gene,
located on
chromosome 3. It is a
subunit of the SAGA
chromatin remodeling complex,
which regulates gene...
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Ataxin-3 is a
protein that in
humans is
encoded by the ATXN3 gene. Machado–Joseph disease, also
known as
spinocerebellar ataxia-3, is an
autosomal dominant...
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Ataxin-2 is a
protein that in
humans is
encoded by the ATXN2 gene.
Mutations in ATXN2
cause spinocerebellar ataxia type 2 (SCA2).
Ataxin-2
contains the...
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repeats in the
polyglutamine tract of the ATXN1 gene,
which encodes the
ataxin 1 protein. This
expansion results in a
larger than
normal number of repeats...
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Ataxin 1 like is a
protein that in
humans is
encoded by the ATXN1L gene. GRCh38:
Ensembl release 89: ENSG00000224470 – Ensembl, May 2017 GRCm38: Ensembl...
- aggregation, and
proteasomal degradation of the
protein product of this gene,
Ataxin 1, pla**** a role in the disorder.
After solving the
etiology of spinocerebellar...
-
repeats in the ATXN3 gene that
results in an
abnormal form of the
protein ataxin which causes degeneration of
cells in the hindbrain. Some symptoms, such...
- diseases,
which are
caused when a disease-****ociated
protein (i.e.,
ataxin-1,
ataxin-3, etc.)
contains a
large number of
repeats of
glutamine residues,...