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Gene Review:

ATXN2L - ataxin 2-like

Homo sapiens

Synonyms: A2D, A2LG, A2LP, A2RP, A2lp, ...

Meunier, C. et al., Figueroa, K.P. et al.

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Disease relevance of ATXN2L

The A2D are 130-kDa proteins that have three regions similar to those of Ataxin-2, the gene product causing familial type 2 spinocerebellar ataxia [1].

High impact information on ATXN2L

TPO also caused the release of A2D from the activated receptor, and the phosphorylation of A2D on tyrosines residues was dependent on the Mpl C-terminal domain [1].
Northern blotting indicated that the A2D gene is widely expressed in immortalized cell lines and hematopoietic and fetal tissues [1].
A2D has several isoforms with different C-terminal domains, all produced from a single gene by alternative splicing [1].
Identification and expression of the gene for human ataxin-2-related protein on chromosome 16 [2].

Other interactions of ATXN2L

Ataxin-2 and A2RP are proteins highly conserved in evolution with orthologs in mouse, cattle, pig, frog, and plants [2].

References

Cloning and characterization of a family of proteins associated with Mpl. Meunier, C., Bordereaux, D., Porteu, F., Gisselbrecht, S., Chrétien, S., Courtois, G. J. Biol. Chem. (2002) [Pubmed]
Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. Figueroa, K.P., Pulst, S.M. Exp. Neurol. (2003) [Pubmed]

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ATXN2L	Bos taurus
ATXN2L	Canis lupus familiaris
atxn2l	Danio rerio
Atxn2l	Mus musculus
ATXN2L	Pan troglodytes
Atxn2l	Rattus norvegicus
atxn2l	Xenopus (Silurana) tropicalis

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