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- ... is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, ... CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as ...
- ... provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin's function is ... response when it is no longer needed. Pyrin also interacts with other molecules to assemble themselves into ...
- The ANOS1 gene, also known as KAL1, provides instructions for making a protein called anosmin-1. This protein is involved in development before ... nerve cells that transmit nerve impulses. The protein also plays a role in regulating contact between nerve ...
- ... is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, ... CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as ...
- ... making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin ( ... CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as ...
- ... making a protein called neutrophil cytosolic factor 1 (also known as p47-phox). This protein is one ... invaders such as bacteria and fungi. NOX is also thought to regulate the activity of immune cells ...
- ... for making a protein called ryanodine receptor 1 (also called the RYR1 channel). This protein is part ... in the upper legs and hips. Affected individuals also have an increased risk of malignant hyperthermia (described ...
- ... Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to ... regulates blood calcium levels. Magnesium and calcium are also required for the normal functioning of nerve cells ...
- ... for the production of a protein called merlin, also known as schwannomin. This protein is made in ... Schwann cells. People with neurofibromatosis type 2 can also develop other nervous system tumors, including meningiomas and ...
- ... instructions for making a protein called connexin-32 (also known as gap junction beta 1). This protein ... hands and feet. A few of these mutations also cause hearing loss in individuals with this type ...