TIMM8A (NM_004085) Human Mass Spec Standard

Specifications

Product Data
Description	TIMM8A MS Standard C13 and N15-labeled recombinant protein (NP_004076)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC204771
Predicted MW	11 kDa
Protein Sequence	Sequence Link (showhide) >RC204771 protein sequence Red=Cloning site Green=Tags(s) MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERF IDTSQFILNRLEQTQKSKPVFSESLSD TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_004076
RefSeq Size	1459
RefSeq ORF	291
Synonyms	DDP; DDP1; DFN1; MTS; TIM8
Locus ID	1678
Cytogenetics	Xq22.1
Summary	This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Protein Families	Druggable Genome

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