| Modification Notes |
The vertebrate body appears externally symmetric, yet the central nervous system and visceral organs are arranged asymmetrically. Recent research suggests that a novel 2,226 amino acid protein called rotatin, which is also known as RTTN, FLJ26356, DKFZp434G145 or FLJ39085, is involved in the early developmental genetic cascade governing left-right specification and axial rotation. Rotatin regulates expression of essential left-right specification genes including Nodal, Lefty and Pitx2 and likely plays a role in notochord development. Studies suggest that rotatin deficiency elicits a recessive lethal mutation called nt (no turning) which causes defects in left-right and axial patterning. Five rotatin isoforms are known to exist as a result of alternative splicing, and the gene encoding rotatin maps to human chromosome 18q22.2. |