DYM Proteins and Enzymes

The DYM gene encodes for a protein that is critical for correct organization of Golgi apparatus and is involved in skeletal development and brain functioning. Isoform 1 of this protein is 669 amino acids long at nearly 76 kDA while isoform 2 is 479 amino acids long at approximately 54 kDA. DYM is known to interact with ACO2, C12orf4, SPAG9, GMPS, and TBC1D22B genes. Defects in the DYM gene are known to cause Dyggve-Melchior-Clausen syndrome as well as Smith-McCort Dysplasia. DYM has also been investigated for its role in various diseases such as thyroiditis, acromegaly, dwarfism, gangliosidosis, turner syndrome, atherosclerosis, microencephaly, intellectual disabilities, and sponastrime dysplasia.