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Protein Page:
DYM (human)

Overview
DYM Necessary for correct organization of Golgi apparatus. Involved in bone development. Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC). DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen syndrome. Belongs to the dymeclin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 18q21.1
Cellular Component: cytoplasm; Golgi apparatus
Molecular Function: enzyme binding; protein binding
Biological Process: Golgi organization and biogenesis
Disease: Dyggve-melchior-clausen Disease; Smith-mccort Dysplasia 1
Reference #:  Q7RTS9 (UniProtKB)
Alt. Names/Synonyms: DMC; Dyggve-Melchior-Clausen syndrome protein; DYM; Dymeclin; FLJ20071; FLJ90130; SMC
Gene Symbols: DYM
Molecular weight: 75,935 Da
Basal Isoelectric point: 5.56  Predict pI for various phosphorylation states
Select Structure to View Below

DYM

Protein Structure Not Found.


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