Structural

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...

MYH7 on chromosome 14q11.2 encodes beta myosin heavy chain, the motor protein that drives contraction in the ventricles of the hea...

LMNA on chromosome 1q22 encodes lamin A and lamin C, intermediate filament proteins produced by alternative splicing. Lamins form ...

PMP22 Peripheral Myelin Protein 22 on chromosome 17p12 encodes a small membrane glycoprotein that is a component of compact myelin...

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 ...

USH2A on chromosome 1q41 encodes usherin, a very large protein found in the basement membranes of many tissues and at the pericili...

MAPT on chromosome 17q21.31 encodes tau, a microtubule associated protein abundant in neuronal axons that promotes the assembly an...

FBN1 on chromosome 15q21.1 encodes fibrillin 1, a large extracellular matrix glycoprotein that assembles into microfibrils, which ...

MYBPC3 on chromosome 11p11.2 encodes cardiac myosin binding protein C, a component of the sarcomere, the contractile unit of heart...

COL4A5 on chromosome Xq22.3 encodes the alpha 5 chain of type IV collagen, which assembles with alpha 3 and alpha 4 chains into a ...

RHO on chromosome 3q22.1 encodes rhodopsin, the light sensitive pigment of the rod photoreceptors, made up of the protein opsin bo...

TTN on chromosome 2q31.2 encodes titin, the largest known human protein, which spans half a sarcomere from the Z disc to the M lin...