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- Table of Contents
Facts about Ataxin-7.
Necessary for microtubule cytoskeleton stabilization. .
Human | |
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Gene Name: | ATXN7 |
Uniprot: | O15265 |
Entrez: | 6314 |
Belongs to: |
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ataxin-7 family |
ADCAII; ataxin 7; FLJ17787; SCA7
Mass (kDA):
95.451 kDA
Human | |
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Location: | 3p14.1 |
Sequence: | 3; NC_000003.12 (63863144..64003462) |
Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.
[Isoform a]: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.; [Isoform b]: Cytoplasm.
PMID: 9288099 by David G., et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
PMID: 9425224 by Del-Favero J., et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.