GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: MMP19

id4327
symbolMMP19
organismHomo sapiens
full namematrix metallopeptidase 19
summaryThis gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
variant-disease

GRCh38/hg38 12q13.2(chr12:55845043-55851177) AND Cavitary optic disc anomalies

NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter) AND Idiopathic fibrosing alveolitis, chronic form

GRCh38/hg38 12q13.2(chr12:55845043-55851177)x4 AND Cavitary optic disc anomalies

GRCh37/hg19 12q13.2(chr12:55975308-56593032)x3 AND See cases

GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 AND See cases

... 6 more


Partner site shoot web on site-shot.com.