Polymorphonuclear Elastase (PMN) ELISA Kit for Monkey

This gene encodes a tubulin binding cofactor that participates in microtubule dynamics. A mouse model of progressive motor neuropathy (pmn) was discovered to harbor a single amino acid deletion in this gene. Mice that are homozygous for pmn allele exhibit progressive atrophy and premature death due to respiratory failure. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

TBCE: Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation. Defects in TBCE are a cause of hypoparathyroidism- retardation-dysmorphism syndrome (HRD); also known as hypoparathyroidism with short stature, mental retardation, and seizures or Sanjad-Sakati syndrome. HRD is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1). KCS1 is similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections. Belongs to the TBCE family.

Protein type: Chaperone

Cellular Component: cytoskeleton; cytoplasm

Molecular Function: unfolded protein binding

Biological Process: tubulin folding; developmental growth; protein folding; axonogenesis; adult locomotory behavior; muscle atrophy; microtubule cytoskeleton organization and biogenesis; peripheral nervous system neuron axonogenesis; post-chaperonin tubulin folding pathway; post-embryonic development