1-832-868-1888
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Catalog Number: |
29439 |
other_names: | MMADHC; C2orf25; CL25022; cblD; methylmalonic aciduria and homocystinuria, cblD type |
Amount: |
100μg |
calculated_mw: | 33kDa |
host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:Q9H3L0 |
Form of Antibody: |
Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4. |
Storage/Stability: |
|
Immunogen: |
Recombinant fusion protein of human MMADHC (NP_056517.1). |
Purification: |
Affinity purification |
Specificity/Sensitivity: |
|
Applications: |
WB |
Background: |
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X. |
References: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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