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Positive Control: 293 cell, F9.
Expressed in the cochlea; particularly in the inner and outer hair cells. Defects in Mcoln3 are the cause of the varitin-waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe. Belongs to the transient receptor family, polycystin subfamily.
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: FLJ11006; FLJ36629; MCLN3; Mcoln3 mucolipin 3; MGC124245; MGC124246; MGC71509; Mucolipin-3; Transient receptor potential channel mucolipin 3; TRPML3; varitint-waddler
基因别名: 6720490O21Rik; MCOLN3; TRP-ML3; TRPML3; Va
UniProt ID: (Human) Q8TDD5, (Mouse) Q8R4F0
Entrez Gene ID: (Human) 55283, (Mouse) 171166