Recombinant Human CLN3 cell lysate

• Cat.No.: CLN3-367HCL

Specification

• Description: This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: CLN3 ceroid-lipofuscinosis, neuronal 3 [ Homo sapiens ]
• Official Symbol: CLN3
• Synonyms: CLN3; ceroid-lipofuscinosis, neuronal 3; Batten, Spielmeyer Vogt disease , BTS; battenin; JNCL; juvenile neuronal ceroid lipofuscinosis; batten disease protein; BTS; MGC102840
• Gene ID: 1201
• mRNA Refseq: NM_000086
• Protein Refseq: NP_000077
• MIM: 607042
• UniProt ID: Q13286
• Chromosome Location: 16p12
• Pathway: Lysosome, organism-specific biosystem; Lysosome, conserved biosystem
• Function: calcium-dependent protein binding; protein binding; unfolded protein binding