Gene: EFEMP2

Alternate names for this Gene: ARCL1B|FBLN4|MBP1|UPH1

Gene Summary: A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: EGF containing fibulin extracellular matrix protein 2

Type of Gene: protein-coding

Gene: MUS81

Alternate names for this Gene: SLX3

Gene Summary: This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: MUS81 structure-specific endonuclease subunit

Type of Gene: protein-coding