MITD1 is a 249 amino acid peripheral membrane protein that localizes to the cytoplasmic side of late endosomes, where it is Implicated in endosomal protein transport. MITD1 interacts with CHMP2 and CHMP1B, and is encoded by a gene that maps to human chromosome 2q11.2. As the second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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, Alstr鰉 syndrome is due to mutations in the ALMS1 gene.

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