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Mouse Anti-TIMMDC1 Recombinant Antibody (CBYJT-3189) (CBMAB-T2463-YJ)

Provided herein is a Mouse monoclonal antibody, which binds to TIMMDC1 (Translocase Of Inner Mitochondrial Membrane Domain Containing 1). The antibody can be used for immunoassay techniques, such as WB, IP, IF, ELISA.
See all TIMMDC1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYJT-3189
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
PBS, pH 7.4
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Translocase Of Inner Mitochondrial Membrane Domain Containing 1
Introduction
Diseases associated with TIMMDC1 include Mitochondrial Complex I Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins and metabolism.
Entrez Gene ID
51300
UniProt ID
Q9NPL8
Alternative Names
Translocase Of Inner Mitochondrial Membrane Domain Containing 1; Translocase Of Inner Mitochondrial Membrane Domain-Containing Protein 1; TIMM Domain Containing-Protein 1; C3orf1; Complex I Assembly Factor TIMMDC1, Mitochondrial; Chromosome 3 Open Reading Frame 1; Transmembrane Protein C3orf1; M5-14 Protein; Protein M5-14
Function
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.
Cellular Location
Mitochondrion membrane
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31):
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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