| Modification Notes |
SFT2D3 (SFT2 domain-containing protein 3) is a 215 amino acid multi-pass membrane protein that belongs to the SFT2 family. SFT2D3 may be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. The SFT2D3 gene is conserved in chimpanzee, cow, mouse, rat, zebrafish, fruit fly, mosquito and C.elegans, and maps to human chromosome 2q14.3. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes. |
