Musculoskeletal

DMD on chromosome Xp21.2 is the largest known human gene, spanning more than 2 million base pairs with 79 exons. It encodes dystro...

UTRN on chromosome 6q24.2 encodes utrophin, an autosomal paralog of dystrophin that shares much of its structure and many of its b...

COL1A1 on chromosome 17q21.33 encodes the pro alpha 1 chain of type I collagen. Two alpha 1 chains and one alpha 2 chain, encoded ...

EXT1 on chromosome 8q24.11 and EXT2 on chromosome 11p11.2 encode glycosyltransferases that work together in the Golgi apparatus to...

DMPK on chromosome 19q13.32 encodes myotonic dystrophy protein kinase, a serine threonine kinase expressed in muscle, heart, and b...

FGFR3 on chromosome 4p16.3 encodes fibroblast growth factor receptor 3, a receptor tyrosine kinase that acts as a brake on the gro...

RYR1 on chromosome 19q13.2 encodes ryanodine receptor 1, the main calcium release channel of the sarcoplasmic reticulum in skeleta...