Biomaterial Database

Novel human pathological mutations. Gene symbol: MC2R. Disease: Glucocorticoid deficiency. 2010

O Thomas Mueller, and Adam Coovadia

Pathology, All Childrens Hospital, 6th Street South, 801, 33701, Saint Petersburg, USA. muellert@allkids.org

UI	MeSH Term	Description	Entries
D003062	Codon	A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).	Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons
D005938	Glucocorticoids	A group of CORTICOSTEROIDS that affect carbohydrate metabolism (GLUCONEOGENESIS, liver glycogen deposition, elevation of BLOOD SUGAR), inhibit ADRENOCORTICOTROPIC HORMONE secretion, and possess pronounced anti-inflammatory activity. They also play a role in fat and protein metabolism, maintenance of arterial blood pressure, alteration of the connective tissue response to injury, reduction in the number of circulating lymphocytes, and functioning of the central nervous system.	Glucocorticoid,Glucocorticoid Effect,Glucorticoid Effects,Effect, Glucocorticoid,Effects, Glucorticoid
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D044103	Receptor, Melanocortin, Type 2	A melanocortin receptor subtype found primarily in the ADRENAL CORTEX. It shows specificity for ADRENOCORTICOTROPIC HORMONE.	Melanocortin Receptor 2,MC2 Receptor,Melanocortin-2 Receptor,Receptor, Melanocortin-2,Melanocortin 2 Receptor,Receptor, MC2,Receptor, Melanocortin 2
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense