MCOLN1 sirna

MCOLN1 siRNA (Human)

Cat. Num. AAA8229712

• Gene Names: MCOLN1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: MCOLN1; MCOLN1 siRNA (Human); ML4; Mucolipin-1; MG-2; Mucolipidin; MCOLN1 sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: MCOLN1 siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 580

• Applicable Applications for MCOLN1 sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human MCOLN1 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for MCOLN1 sirna

siRNA to inhibit MCOLN1 expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 10092597
• NCBI GeneID: 57192
• NCBI Accession #: NP_065394.1
• NCBI GenBank Nucleotide #: NM_020533.2
• UniProt Accession #: Q9GZU1; Q7Z4F7; Q9H292; Q9H4B3; Q9H4B5; D6W647
• Molecular Weight: 65,022 Da
• NCBI Official Full Name: mucolipin-1
• NCBI Official Synonym Full Names: mucolipin 1
• NCBI Official Symbol: MCOLN1
• NCBI Official Synonym Symbols: ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• NCBI Protein Information: mucolipin-1
• UniProt Protein Name: Mucolipin-1
• Protein Family: Mucolipin
• UniProt Gene Name: MCOLN1
• UniProt Synonym Gene Names: ML4
• UniProt Entry Name: MCLN1_HUMAN

NCBI Description

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

Uniprot Description

mucolipin 1: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. Defects in MCOLN1 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. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.

Protein type: Membrane protein, integral; Transporter, ion channel; Channel, cation; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: integral to plasma membrane; late endosome membrane; lysosomal membrane; cytoplasm; integral to membrane; plasma membrane; endosome membrane; receptor complex

Molecular Function: cation channel activity

Biological Process: cellular iron ion homeostasis; release of sequestered calcium ion into cytosol; transferrin transport; transmembrane transport; cation transport

Disease: Mucolipidosis Iv