The MFSD8 Polyclonal Antibody (PAC039166) is a valuable tool for researchers studying MFSD8, a protein involved in lysosomal function and transport. This antibody, generated in rabbits, has high specificity and sensitivity for detecting MFSD8 in human samples, making it suitable for various applications including Western blot analysis.MFSD8, also known as Major Facilitator Superfamily Domain Containing 8, is essential for maintaining lysosomal function and proper cellular transport processes. Dysregulation of MFSD8 has been implicated in lysosomal storage disorders and neurodegenerative diseases.
By targeting MFSD8 with this antibody, researchers can gain insights into its expression levels and localization within cells, aiding in the understanding of its role in disease pathology.Furthermore, the MFSD8 Polyclonal Antibody can be a valuable tool for drug discovery and development, as targeting MFSD8 may hold therapeutic potential for treating lysosomal storage disorders and related disorders. Its high reactivity and specificity make it an ideal choice for studies focusing on lysosomal biology and related diseases.
Immunohistochemistry of paraffin-embedded human adrenal gland tissue using PACO39166 at dilution of 1:100.
Immunofluorescent analysis of HepG2 cells using PACO39166 at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
Background:
May be a carrier that transport small solutes by using chemiosmotic ion gradients.
Synonyms:
Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7), MFSD8, CLN7
UniProt Protein Function:
MFSD8: May be a carrier that transport small solutes by using chemiosmotic ion gradients (Potential). Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7). A form of late infantile neuronal ceroid lipofuscinosis. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure. Belongs to the major facilitator superfamily.Protein type: Membrane protein, multi-pass; Membrane protein, integralChromosomal Location of Human Ortholog: 4q28.2Cellular Component: nucleoplasm; intracellular membrane-bound organelle; lysosomal membrane; integral to membraneBiological Process: lysosome organization and biogenesis; transmembrane transportDisease: Ceroid Lipofuscinosis, Neuronal, 7; Macular Dystrophy With Central Cone Involvement
UniProt Protein Details:
NCBI Summary:
This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
