What does Elane gene do?
The ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase.
What is Omim phenotype?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.
Do neutrophils make elastase?
Neutrophil elastase is secreted by neutrophils during inflammation, and destroys bacteria and host tissue. It also localizes to neutrophil extracellular traps (NETs), via its high affinity for DNA, an unusual property for serine proteases.
What is the OMIM gene identifier?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
What does OMIM number tell you?
Each OMIM entry is assigned a unique six-digit number whose first digit indicates whether its inheritance is autosomal, X-linked, Y-linked or mitochondrial: 1, autosomal loci or phenotypes (entries created before May 15, 1994); 2, autosomal loci or phenotypes (entries created before May 15, 1994); 3, X-linked loci or …
What high neutrophils indicate?
Having a high percentage of neutrophils in your blood is called neutrophilia. This is a sign that your body has an infection. Neutrophilia can point to a number of underlying conditions and factors, including: infection, most likely bacterial.
Why do neutrophils produce elastase?
Is OMIM a primary database?
Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick’s Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.
How many diseases are in OMIM?
OMIM passes the 1,000-disease-gene mark.