Читать книгу Cell Biology - Stephen R. Bolsover - Страница 108

One of the great difficulties that has arisen out of genome‐sequencing projects is how to name the genes and the proteins they encode. This has not been easy and a number of committees have been set up to deal with this problem. In general, each gene is designated by an abbreviation, written in capitalized italics. For example, type 1 collagen (the commonest form in the human body) is a trimer formed of two molecules of collagen 1 α1 and one molecule of collagen 1 α2. The abbreviated names of these proteins are COL1A1 and COL1A2 respectively, using normal capitals, while the names of the genes coding for these proteins use capitalized italics: COL1A1 and COL1A2. It is mutations in COL1A1 that give rise to osteogenesis imperfecta (Medical Relevance 3.2 on page 47).

There are many instances where for historical reasons the correlation between the protein and gene names are not so simple. For example the proteins connexin 43, 46, and 50 (page 28) are named for their relative molecular masses (43 kDa, etc.) and have the abbreviated names Cx43, Cx46, and Cx50. However, the genes that encode these proteins are called GJA1, GJA3, and GJA8 respectively, where GJ stands for gap junction.