Product Datasheet
MMADHC Polyclonal Antibody
Catalog Number: 29439
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q9H3L0
NCBI Gene ID:27249
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human MMADHC (NP_056517.1).
- reactivity:
- Human,Mouse,Rat
- appl_detail:
- WB 1:500 - 1:2000
- other_names:
- MMADHC; C2orf25; CL25022; cblD; methylmalonic aciduria and homocystinuria, cblD type
- Purification:
- Affinity purification
- 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.
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