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This target displays homology in the following species: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Abelson helper integration site 1 protein homolog; AHI-1; Jouberin; RP1-32B1.2
基因别名: Ahi-1; Ahi1
UniProt ID: (Rat) Q6DTM3
Entrez Gene ID: (Rat) 308923