We are looking up deiseases and the one that I got was Marfan syndrome. There are five things I need to answer.
1. Name of the gene.
2.name of protein it codes for.
3. Length in base pairs.
4. Chromosome number whichnit is found on.
5. What is the function of the protein in the cells disease.
I know it's found on chromosome 15 and the protein it codes for is fibrillin but im not really sure of how to find the length in base pairs and the function of the protein.
1. Name of the gene.
2.name of protein it codes for.
3. Length in base pairs.
4. Chromosome number whichnit is found on.
5. What is the function of the protein in the cells disease.
I know it's found on chromosome 15 and the protein it codes for is fibrillin but im not really sure of how to find the length in base pairs and the function of the protein.
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FBN1 is the only gene in which mutations are known to cause classic Marfan syndrome.
Genotyping of 93 individuals presenting with classic Marfan syndrome identified FBN1 mutations in 86 (93%); none of the remainder had mutations in either TGFBR1 or TGFBR2 [Loeys et al 2004, Loeys et al 2005].
chromosome #15 on the long arm (q) at 15q21.1.
The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations
protein Sequence length 2871 AA.
FBN1 is a large gene (65 exons) located at chromosome 15q-21.1. It is characterized by many cysteine-rich sequences homologous to epidermal growth factor (EGF) or the transforming growth factor-beta binding protein -1
Genotyping of 93 individuals presenting with classic Marfan syndrome identified FBN1 mutations in 86 (93%); none of the remainder had mutations in either TGFBR1 or TGFBR2 [Loeys et al 2004, Loeys et al 2005].
chromosome #15 on the long arm (q) at 15q21.1.
The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations
protein Sequence length 2871 AA.
FBN1 is a large gene (65 exons) located at chromosome 15q-21.1. It is characterized by many cysteine-rich sequences homologous to epidermal growth factor (EGF) or the transforming growth factor-beta binding protein -1