*2.11. ABCA8*

The human *ABCA8* gene has no known orthologs in Sauropsida (reptiles and birds) and ray-finned fishes. The ABCA8-208 transcript is 6002 bp long and has 40 exons. Intron 1-2 (5746 bp) and intron 2-3 (7272) divide the 340 nt long 5′UTR into three parts. One sub-region (−234 to −180) displayed the highest level of conservation. Six uATGs (1. −265, 2. −243, 3. −152, 4. −149, 5. −135, 6. −79) were recognized; all of them are present only in humans (cat. 0) with the exception of the second one, which can also be found in other primates (cat. 1). All uATGs show adequate contexts and middle TIS scores with the exceptions of the second one, which shows a high TIS score, and the sixth one, which shows a low TIS score. Two uORFs were predicted; the first is 39 nt long and starts from the second uATG and the second 75 nt long from the sixth uATG. No probable RG4-forming sequence was detected and three stem loops were predicted in this region. The ABCA8 protein was found to be expressed in some human tissues (14/45). The mode expression score was low, enhanced in adrenal gland, testis, ovary, liver, and adipose tissue.
