The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

Sgce

Chromosome:

Human Chr7q21-q22
Mouse Chr6 (proximal)

Links:

OMIM

Imprinting:

Maternal allele silenced; paternal allele active (El Kharroubi A et al, 2001; Piras G et al, 2000).

Gene Product:

Sarcoglycan-epsilon; one of five members of the sarcoglycan family; components of the dystrophin-sarcoglycan complex in muscle (Bonnemann CG et al, 1996; Ettinger AJ et al, 1997). Sgce protein is found in smooth muscle of blood vessels (Straub V et al, 1999).

Functional Data:

Sarcoglycans are thought to functionally link the cytoskeleton of muscle cells to the extracellular matrix (Bonnemann CG et al, 1996). SGCE is a candidate for embryonic lethality associated with mat UPD of proximal mu Chr6. SGCE was also considered a candidate for Silver-Russell syndrome (SRS; hu Chr7), which is characterized by a intrauterine and postnatal growth retardation, and relative macrocephaly associated with mild facial anomalies. However, mutations in the human SGCE gene were recently found to cause a different disorder, myoclonus-dystonia syndrome (Zimprich A et al, 2001). A parent-of-origin dependence of the penetrance of that genetic disease is consistent with imprinting of human SGCE.

 

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