| Modification Notes |
TMEM200A (transmembrane protein 200A), also known as TTMA or TTMC, is a 491 amino acid multi-pass membrane protein that is expressed in cerebellum and belongs to the TMEM200 family. The gene encoding TMEM200A maps to human chromosome 6q23.1 and mouse chromosome 10 A4. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Stickler syndrome, Parkinson’s disease, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. |