Gene: MASP2

Alternate names for this Gene: MAP19|MASP-2|MASP1P1|sMAP

Gene Summary: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: mannan binding lectin serine peptidase 2

Type of Gene: protein-coding

Gene: TARDBP

Alternate names for this Gene: ALS10|TDP-43

Gene Summary: HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: TAR DNA binding protein

Type of Gene: protein-coding