The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq, Jul 2008].
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Schiaffino, Bassi, Rugarli, Renieri, Galli, Ballabio: "Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region." in: Human molecular genetics, Vol. 4, Issue 3, pp. 373-82, (1995) (PubMed).
Aliases for SHROOM2 抗体
shroom family member 2 (SHROOM2) 抗体 shroom family member 2 (shroom2) 抗体 shroom family member 2 (Shroom2) 抗体 4832440C16 抗体 APXL 抗体 apxl 抗体 Apxl 抗体 C630003H05Rik 抗体 HSAPXL 抗体 shrm2 抗体 Shrm2 抗体 SHROOM2 抗体