AHI1
Abelson helper integration site 1
Sinónimos:
AHI-1, JBTS3, ORF1, dJ71N10.1
Especie:
Human AHI1 (54806), Mouse Ahi1 (52906), Rat Ahi1 (308923), chicken AHI1 (421693), Zebrafish ahi1 (562701), sheep AHI1 (101120502), cow AHI1 (528398), Horse AHI1 (100073172), Domestic Rabbit AHI1 (100339239), dog AHI1 (476212) ...Más
ID UniProtKB:
ID del gen:
- Human(54806) Summary: 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]
- Mouse(52906) Abelson helper integration site 1
- Rat(308923) Abelson helper integration site 1
- chicken(421693) Abelson helper integration site 1
- Zebrafish(562701) Abelson helper integration site 1
- sheep(101120502) Abelson helper integration site 1
- cow(528398) Abelson helper integration site 1
- Horse(100073172) Abelson helper integration site 1
- Domestic Rabbit(100339239) Abelson helper integration site 1
- dog(476212) Abelson helper integration site 1
- naked mole-rat(101717319) Abelson helper integration site 1
- domestic guinea pig(100719960) Abelson helper integration site 1
- domestic cat(101081636) Abelson helper integration site 1
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