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NEUR3 Rabbit Polyclonal Antibody, 20ul Immune Cell Preparation Mutations in this gene have

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NEUR3 Rabbit Polyclonal Antibody, 20ul Immune Cell Preparation Mutations in this gene haveThis gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer.

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Description

Mutations in this gene have been associated with familial dysautonomia

and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes

It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes

and a headpiece domain in the C-terminus that binds F-actin

NEUR3 Rabbit Polyclonal Antibody, 20ul Immune Cell Preparation Mutations in this gene haveThis gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer.

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