1. 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

2. 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

3. References
NCBI. NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 04 Mar
NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: