Chapter 2: Chromosome 2 2 A Cell Nucleus 206,887 2595 aa ABCA12 DNA Sequence Chromosome 206,887 Name of Protein 2 Name of Gene ABCA12 TP-binding cassette, sub-family A (ABC1), member 12 transcription Amino acid sequence mRNA 2595 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? may cause increased pressure in the eye by obstructing the aqueous outflow Condition/Disease harlequin ichthyosis

Description of harlequin ichthyosis Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). Severe Case Normal Case

References NCBI. NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 04 Mar. 2015. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/.