Short Stature Homeobox Protein

Engelsk definition

A homeodomain protein that is highly expressed in the nuclei of skeletal muscle, bone marrow, and osteogenic cells and has critical roles in growth and development. Its gene resides within PSEUDOAUTOSOMAL REGION 1 of X and Y chromosomes and mutations are associated with several growth disorders including LERI-WEIL SYNDROME; LANGER MESOMELIC DYSPLASIA; and SHORT STATURE, IDIOPATHIC, X-LINKED.

Svenska synonymer

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Engelska synonymer

SHOXY Protein GCFX Protein PHOG Protein SHOX Protein