Citrin, also known as solute carrier family 25, member 13 (citrin) or SLC25A13, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''SLC25A13'' gene.
Citrin is associated with type II
citrullinemia
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .
Two for ...
and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
See also
*
Solute carrier family
References
External links
*
GeneReviews/NCBI/NIH/UW entry on Citrin Deficiency*
*
Solute carrier family
EF-hand-containing proteins
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