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Abnova
MCOLN1 Polyclonal Antibody, MaxPab™
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Product Details
H00057192-B01P
Product Specifications
Species Reactivity
Human
Host/Isotype
Mouse
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
MCOLN1 (NP_065394.1, 1 a.a. approximately 580 a.a) full-length human protein.
Conjugate
Form
Liquid
Concentration
0.5 mg/mL
Purification
Protein A
Storage buffer
PBS, pH 7.4
Contains
no preservative
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Shipping conditions
Wet ice
Product Specific Information
Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MTAPAGPRGS ETERLLTPNP GYGTQAGPSP APPTPPEEED LRRRLKYFFM SPCDKFRAKG RKPCKLMLQV VKILVVTVQL ILFGLSNQLA VTFREENTIA FRHLFLLGYS DGADDTFAAY TREQLYQAIF HAVDQYLALP DVSLGRYAYV RGGGDPWTNG SGLALCQRYY HRGHVDPAND TFDIDPMVVT DCIQVDPPER PPPPPSDDLT LLESSSSYKN LTLKFHKLVN VTIHFRLKTI NLQSLINNEI PDCYTFSVLI TFDNKAHSGR IPISLETQAH IQECKHPSVF QHGDNSFRLL FDVVVILTCS LSFLLCARSL LRGFLLQNEF VGFMWRQRGR VISLWERLEF VNGWYILLVT SDVLTISGTI MKIGIEAKNL ASYDVCSILL GTSTLLVWVG VIRYLTFFHN YNILIATLRV ALPSVMRFCC CVAVIYLGYC FCGWIVLGPY HVKFRSLSMV SECLFSLING DDMFVTFAAM QAQQGRSSLV WLFSQLYLYS FISLFIYMVL SLFIALITGA YDTIKHPGGA GAEESELQAY IAQCQDSPTS GKFRRGSGSA CSLLCCCGRD PSEEHSLLVN
Target Information
Defects in Mucolipin-1 are the cause of mucolipidosis type IV (MLIV), also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: MCLN1; MCOLN1 mucolipin 1; MG-2; MGC7172; ML1; Mucolipidin; mucolipidosis type IV protein; Mucolipin-1; Transient receptor potential channel mucolipin 1; TRPML1
Gene Aliases: MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q9GZU1
Entrez Gene ID: (Human) 57192
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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