Tissue expression
Cell line expression
Protein structure
AHI1
Abelson helper integration site 1FLJ20069, JBTS3, ORF1
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Top validated antibodies |
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Invitrogen Antibodies | ![]() |
1 references | Polyclonal |
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Proteintech Group | ![]() |
5 references | Polyclonal |
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antibodies-online | ![]() |
Polyclonal |
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GeneTex | ![]() |
Polyclonal |
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LSBio | ![]() |
Polyclonal |
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