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DYM

This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Early spermatids, Oligodendrocytes, Inhibitory neurons, Late spermatids, Excitatory neurons, Oligodendrocyte precursor cells, Microglial cells, Astrocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with GOLM1 and PPIB.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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