Product Name	MUTED
Chinese Name	MUTED蛋白抗体
Alias	Biogenesis of lysosomal organelles complex 1, subunit 5, muted; Biogenesis of lysosome related organelles complex 1 subunit 5; BLOC 1 subunit 5; BLOS5; MU; MUTED; Muted homolog; Muted protein homolog; MUTED_HUMAN; Protein Muted homolog.
Research Area	Cell biology  Signal transduction
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Dog, Cow, Horse, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	21kDa
Cellular localization	cytoplasmic The cell membrane
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human MUTED: 101-187/187
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Function: The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Subunit: Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with BLOC1S6. Similarity: Belongs to the Muted family. SWISS: Q8TDH9 Gene ID: 63915 Database links: Entrez Gene: 63915 Human Entrez Gene: 17828 Mouse Omim: 607289 Human SwissProt: Q8TDH9 Human SwissProt: Q8R015 Mouse Unigene: 719272 Human Unigene: 261554 Mouse

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