The EPG5 gene provides instructions for making a protein that is involved in a cellular process called autophagy. This process recycles worn-out or unnecessary ...

The PNPLA6 gene provides instructions for making a protein called neuropathy target esterase (NTE). The NTE protein is involved in the breakdown of certain ...

The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the ubiquitin-proteasome system, which is the cell ...

... 10 to 15 percent of people with Leigh syndrome have a mutation in the SURF1 gene. ... proteins are broken down in the cell, which results in the absence ...

... flavin-containing dimethylaniline monooxygenases (FMOs). These enzymes break down compounds that contain nitrogen, sulfur, or phosphorus. The ... chiefly in the liver, is responsible for breaking down nitrogen-containing compounds derived from the diet. One ...

The RNASEH2A gene provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. This complex is a ribonuclease, ...

The ADA2 gene provides instructions for making an enzyme called adenosine deaminase 2. This enzyme breaks down molecules called adenosine and 2'-deoxyadenosine. ...

... a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. ... E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...

... an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur ... Condition MedlinePlus Genetics provides information about Polycystic ovary syndrome More About This Health Condition sulfite oxidase, mitochondrial ...

... Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 ... SL, Caulder MS, Downs CA, Herman G, Jones MC, Kerstjens-Frederikse WS, ...