CLN8 blocking peptide

CLN8 Antibody (C-term) Blocking Peptide

• Gene Names: CLN8; EPMR; C8orf61
• Synonyms: CLN8; CLN8 Antibody (C-term) Blocking Peptide; Protein CLN8; C8orf61; CLN8 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 286

• Cellular Location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for CLN8 blocking peptide

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.

NCBI and Uniprot Product Information

• NCBI GI #: 145559455
• NCBI GeneID: 2055
• UniProt Accession #: Q9UBY8; Q86U71; Q96I95
• Molecular Weight: 32,787 Da
• NCBI Official Full Name: Protein CLN8
• NCBI Official Synonym Full Names: ceroid-lipofuscinosis, neuronal 8
• NCBI Official Symbol: CLN8
• NCBI Official Synonym Symbols: EPMR; C8orf61
• NCBI Protein Information: protein CLN8
• UniProt Protein Name: Protein CLN8
• Protein Family: Protein
• UniProt Gene Name: CLN8
• UniProt Synonym Gene Names: C8orf61
• UniProt Entry Name: CLN8_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2008]

Uniprot Description

CLN8: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8). A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE). A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

Protein type: Cell development/differentiation; Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral; Apoptosis

Chromosomal Location of Human Ortholog: 8p23

Cellular Component: endoplasmic reticulum; ER-Golgi intermediate compartment

Biological Process: ceramide metabolic process; cholesterol metabolic process; nervous system development; phospholipid metabolic process

Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant