Cromossoma 15

Par de cromossoma 15

O cromossoma 15 é um dos 23 pares de cromossomas do cariótipo humano.

Genes

Alguns genes localizados no cromossoma 15:

• CAPN3: Calpain 3 (limb-girdle muscular dystrophy type 2A)
• CHP: Calcium binding protein P22
• FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase)
• FBN1: fibrillin 1 (Marfan syndrome)
• HEXA: hexosaminidase A (alpha polypeptide)(Tay-Sachs disease)
• IVD: isovaleryl Coenzyme A dehydrogenase
• MCPH4: microcephaly, primary autosomal recessive 4
• OCA2: oculocutaneous albinism II (pink-eye dilution homolog, mouse)
• RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
• STRC: stereocilin
• UBE3A: ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
• PML: promyelocytic leukemia protein (involved in t(15,17) with RARalpha, predominant cause of acute promyelocytic leukemia.
• SLC24A5: the gene responsible for at least 1/3 of the skin color differences between races, expressed in the brain and the nervous system
• EYCL3 Eye color 3, BROWN - location: 15q11-q15 (note eye colour is a polygenic trait)
• EYCL2 Eye color 2,Determina o posicionamento dos melanócitos na íris (note eye colour is a polygenic trait)

Doenças

• Síndrome de Prader-Willi
• Síndrome de Marfan
• Síndrome de Angelman
• Câncer de mama