DMWD is a 674 amino acid protein containing five WD repeats. DMWD may play a role in the development of mental symptoms in severe cases of myotonic dystrophy, a chronic multisystemic disease characterized by wasting of the muscles, heart conduction defects, cataracts, endocrine changes and myotonia. The DMWD gene is located upstream of the DMPK gene and is prominently expressed in tissues affected in myotonic dystrophy patients. DMWD may also contribute to regulation in meiosis. DMWD is expressed in kidney and spleen, with strongest expression in brain, liver and testis. The gene encoding DMWD maps to human chromosome 19q13.32 and mouse chromosome 7 A3.
Function:
Could have a regulatory function in meiosis.
Subcellular Location:
Contains 5 WD repeats.
Tissue Specificity:
Strongest expression in brain, liver, and testis. Also expressed in kidney and spleen.
Similarity:
Contains 5 WD repeats.
SWISS:
Q09019
Gene ID:
1762
Database links:
Entrez Gene: 1762 Human
Omim: 609857 Human
SwissProt: Q09019 Human
Unigene: 515474 Human
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