Gene: SRFBP1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: LOX

Alternate names for this Gene: AAT10

Gene Summary: This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.1

Description of this Gene: lysyl oxidase

Type of Gene: protein-coding

rs886040965 in SRFBP1;LOX gene and AORTIC ANEURYSM, FAMILIAL THORACIC 10 PMID 27432961 2016 Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

PMID 26838787 2016 LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

rs876657852 in SRFBP1;LOX gene and Familial thoracic aortic aneurysm and aortic dissection PMID 27432961 2016 Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

PMID 26838787 2016 LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.