ENOB Polyclonal Antibody, 20ul ADME and autosomal recessive non-syndromic sensorineural

and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53)

The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression

tissue specificity:Ubiquitously expressed

Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity involved in apoptotic process

May be involved in synaptic plasticity regulation through the control of Rac-GTP levels

ENOB Polyclonal Antibody, 20ul ADME and autosomal recessive non-syndromic sensorineuralThis gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.