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Transcript of Chromosome 13
EDNRB- Provides instructions for making a protein called endothelin receptor type B.
GJB2- Provides instructions for making a protein called gap junction beta 2.
GJB6- Provides instructions for making a protein called gap junction beta 6.
ITM2B- Provides instructions for producing a protein called the integral membrane protein 2B. Genes contd
SACS- Provides instructions for producing a protein called sacsin.
SGCG- Provides instructions for making the gamma component of a group of proteins called the sarcoglycan protein complex.
SLC25A15- Provides instructions for making a protein called a mitochondrial ornithine transporter.
SLITRK1- Provides instructions for making a protein responsible for the development of nerve cells
Genes Contd. KL- Provides instructions for making the protein alpha-klotho.
PCCA- Provides instructions for making part of an enzyme called propionyl-CoA carbCOL4A1-
POLR1D- Provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III.
RB1- Provides instructions for making a protein called pRB. Tumor suppressor.
RNASEH2B- Provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. The importance of chromosome 13 Chromosome 13 Shape Chromosome 13
By: JD Holloway Genes ATP7B- Provides instructions for the copper transporting protein ATPase 2
B3GALTL- Provides instructions for making an enzyme called B3Glc-T, which is involved in the complex process of adding sugar molecules to proteins.
BRCA2-Makes protein that is a tumor suppressor protein. If the gene is mutated then Breast Cancer developes.
SPG20- Provides instructions for producing a protein called spartin.
SUCLA2- Provides instructions for making one part of an enzyme called succinate-CoA ligase.
ZIC2- Provides instructions for making a protein that plays an important role in the development of the front part of the brain. This chromosome contains the BRCA2 gene. When it is mutated by either an insertion or deletion, the protein to control cell growth and division is disrupted. Breast Cancer develops and other cancers develop because of this. Chromosome 13 is recognized for this Breast Cancer gene.
It is important for the research of Breast Cancer and a cure. Understanding chromosome 13 and is Breast Cancer gene will provide further advance for a cure. Diseases Breast Cancer- Mutation in the BRCA2 gene
Retinoblastoma- Caused by deletions. May lead to slow growth and intellectual diabilities.
Trisomy 13- When the cell has three copies of chromosome 13. It disrupts normal development
Leukemias and Lymphomas- Formed from mutations
Wilson's disease- ATP7B mutations. Creates an accumulation of copper, mainly in liver and brain.(eyes too.)
Chromosome 13 ring syndrome: Genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. Creates development issues.
Bibliography Ridley, Matt. Genome, Harper Collins, New York. 1999.
U.S. National Library of Medicine. "Chromosome 13." Genetics Home Reference. U.S. National Library of Medicine, 25 Nov. 2012. Web. 01 Dec. 2012.
MatheMagic. Human Chromosomes. Digital image. MatheMagic.org. MatheMagic, n.d. Web. 1 Dec. 2012.
U.S. National Library of Medicine. Chromosome 13 Diagram. Digital image. Genetics Home Reference. U.S. National Library of Medicine, 25 Nov. 2012. Web. 01 Dec. 2012. Chromosome 13! JD Holloway