Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MVVAFKEEN TIAFKHLFLK GYMDRMDDTY AVYTQSDVYD QLIFAVNQYL QLYNVSVGNH AYENKGTKQS AMAICQHLYK RGNIYPGNDT FDIDPEIETE CFFVEPDEPF HIGTPAENKL NLTLDFHRLL TVELQFKLKA INLQTVRHQE LPDCYDFTLT ITFDNKAHSG RIKISLDNDI SIRECKDWHV SGSIQKNTHY M (86-285 aa encoded by BC060765)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: FLJ11006; FLJ36629; MCLN3; Mcoln3 mucolipin 3; MGC124245; MGC124246; MGC71509; Mucolipin-3; Transient receptor potential channel mucolipin 3; TRPML3; varitint-waddler
Gene Aliases: 6720490O21Rik; MCOLN3; TRP-ML3; TRPML3; Va
UniProt ID: (Human) Q8TDD5, (Mouse) Q8R4F0
Entrez Gene ID: (Human) 55283, (Rat) 308022, (Mouse) 171166
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