1. Chapter 2: Chromosome 2 mRNA transcription translation Amino acid sequence Name of Protein DNA Sequence Name of Gene Chromosome What does this protein make up or do? Condition/Disease ABCA12 2 206,887 bp ATP-binding cassette transporter 12 2595 aa makes proteins that transport molecules across cell membranes. harlequin ichthyosis

2. Description of harlequin ichthyosis Symptoms and characteristics Symptoms and characteristics Harlequin ichthyosis is a severe, inherited skin disorder, which affects the way skin regenerates. It’s very rare and has no known cure, mostly affects infants. Harlequin ichthyosis is a severe, inherited skin disorder, which affects the way skin regenerates. It’s very rare and has no known cure, mostly affects infants. Some signs are: Some signs are: Distorted facial features Distorted facial features Tight skin around eyes and mouth (may force eyelids and lips to turn inside out and affect ability to feed) Tight skin around eyes and mouth (may force eyelids and lips to turn inside out and affect ability to feed) Restricted breathing (when chest or abdomen is affected) Restricted breathing (when chest or abdomen is affected) Treatment for harlequin ichthyosis: Treatment for harlequin ichthyosis: Intravenous tubes to deliver fluids and nutrition Intravenous tubes to deliver fluids and nutrition Monitoring of electrolytes and sodium Monitoring of electrolytes and sodium Lubrication and protection of the eyes, if eyelids are forced open Lubrication and protection of the eyes, if eyelids are forced open Infant with harlequin ichthyosis Infant without harlequin ichthyosis

3. Description of harlequin ichthyosis (cont.) Who is affected? Anyone, but the following have a higher risk: Who is affected? Anyone, but the following have a higher risk: Infants are the only affected by harlequin ichthyosis Infants are the only affected by harlequin ichthyosis Outlook or quality of life Outlook or quality of life Dry, red skin Dry, red skin Large, thick skin scales Large, thick skin scales Limited movement due to tight, inflexible skin Limited movement due to tight, inflexible skin Sparse hair due to blocked hair follicles Sparse hair due to blocked hair follicles Delayed physical development Delayed physical development Researcher: ER

4. References NCBI. Genes and Disease: harlequin ichthyosis [online]. 2005. [cited 2006 febubaury 14]. Available at URL:http://www.ncbi.nlm.nih.gov/guide/proteins/ NCBI. Genes and Disease: harlequin ichthyosis [online]. 2005. [cited 2006 febubaury 14]. Available at URL:http://www.ncbi.nlm.nih.gov/guide/proteins/ Wikipedia: chromosome 2 [online]. 25 January 2015, Wikipedia: chromosome 2 [online]. 25 January 2015,http://en.wikipedia.org/wiki/Chromosome_2_%28human%29 http://en.wikipedia.org/wiki/ABCA12. http://en.wikipedia.org/wiki/ABCA12.