Gene: MASP1

Alternate names for this Gene: 3MC1|CRARF|CRARF1|MAP1|MASP|MASP3|MAp44|PRSS5|RaRF

Gene Summary: This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.3

Description of this Gene: mannan binding lectin serine peptidase 1

Type of Gene: protein-coding

rs3852053 in MASP1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs3852053 in MASP1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs3852053 in MASP1 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs3852053 in MASP1 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs28945068 in MASP1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs3864095 in MASP1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30130595 2018 Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.