Product Datasheet
CLN8 Polyclonal Antibody
Catalog Number: 29954
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q9UBY8
NCBI Gene ID:2055
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- A synthetic peptide of human CLN8.
- appl_detail:
- WB 1:500 - 1:2000
- other_names:
- CLN8; C8orf61; EPMR; protein CLN8
- Purification:
- Affinity purification
- Background:
- This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.
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