NP_082003.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
24,418 Da
NCBI Official Full Name
dymeclin
NCBI Official Synonym Full Names
dymeclin
NCBI Official Synonym Symbols
1810041M12Rik; 4933427L07Rik; C030019K18Rik [Similar Products]
NCBI Protein Information
dymeclin
UniProt Protein Name
Dymeclin
UniProt Entry Name
DYM_MOUSE
UniProt Comments for DYM
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.
Protein type: Membrane protein, integral
Cellular Component: Golgi apparatus; cytoplasm
Molecular Function: enzyme binding
Biological Process: Golgi organization and biogenesis
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Products associated with DYM sirna
Diseases associated with DYM sirna
Organs/Tissues associated with DYM sirna
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