For the best experience on the Abcam website please upgrade to a modern browser such as
Amino Acid Sequence
Abpromise guarantee covers the use of
in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
Constituents: 0.31% Glutathione, 0.79% Tris HCl
Methylmalonic aciduria (cobalamin deficiency) cblA type
Methylmalonic aciduria (cobalamin deficiency) type A
Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.
Widely expressed. Highest expression is observed in liver and skeletal muscle.
Cofactor biosynthesis; adenosylcobalamin biosynthesis.
Involvement in disease
Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA) [MIM:251100]; also known as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.
Belongs to the ArgK family.
Information by UniProt
has not yet been referenced specifically in any publications.
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"