TIF1 beta(Phospho-Ser824) Rabbit Polyclonal Antibody, 100ul Dry Bath Mutations in the human MCOLN1

Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al

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Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung

The protein interacts with and phosphorylates a subunit of the AP-2 complex

In the heart and blood vessels

TIF1 beta(Phospho-Ser824) Rabbit Polyclonal Antibody, 100ul Dry Bath Mutations in the human MCOLN1The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc binding domains a RING a B box type 1 and a B box type 2 and a coiled coil region.