ER6L2 Rabbit Polyclonal Antibody, 100ul Molecular Weight Markers Mutations in this gene are

Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency

Two pseudogenes have also been identified on chromosome 1

PTM:Serine or threonine phosphorylation within the basic region may regulate neurogenic activity

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family

adult lung

ER6L2 Rabbit Polyclonal Antibody, 100ul Molecular Weight Markers Mutations in this gene areThis gene encodes a member of the Snf2 family of helicase like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described.