Genes encoding for ECM defects |
Fibrillin -1 and -2 (MFS)4
|
Microfibril-associated Protein5 (MFAP5)41
|
Filamin A110
|
LOX42,111
|
Menkes disease (ATP7A copper transporter)112
|
Elastin (ELN)113 and Fibulin (FBLN),114 (Cutis Laxa), Emilin1 (elastin microfibril interfacer 1)115
|
Collagen 1 α2, 3 α1, 5 α1, 5 α2 chains (Elhers-Danlos) |
ATP7A (ATPase copper transporter, Menkes disease)116
|
Glucuronyl transferase-1 (GAG synthesis)117
|
Dermatan-sulphate proteoglycans118, Biglycan119
|
NOTCH1120,121
|
TGF-b signalling pathways (loss of function) |
TGFBR1 and TGFBR254,122
|
SMAD355and SMAD456
|
TGFβ-252and -β-353
|
TGFβ-repressor SKI (Shprintzen-Goldberg syndrome)123
|
Contractile proteins (loss of function) |
MYH-11 (myosin heavy chain)46
|
ACTA2 (SM Actin)45
|
MYLCK (myosin LC kinase)47
|
PKG (protein kinase G, gain of function)48
|
vSMC metabolism |
Methionine adenyl transferase124
|
Glucose transporter (SLC2A10)125
|
FOXE3 (Transcription factor)126
|