XB-FEAT-968671

smchd1

This is the community wiki page for the gene smchd1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

gene expression notes

In mouse this gene is expression in cranial structures, especailly the olfactory bulb.

human disease notes

This gene is causal for the disease FSHD2- a late onset disease, called Facial, Scapula, Humeral Dystrophy- a form of muscular distrophy. Mutations in the genes that are involved FSHD2 are frameshift and loss of function incontrast de novo mutations that cause Anrhinia ( congential missing nose) are predicted NOT to cause loss of function , as they are all located at the 5' end of the gene.

NCBI summary

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]