XP_006516838.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
59,086 Da
NCBI Official Full Name
tubulin-specific chaperone E isoform X3
NCBI Official Synonym Full Names
tubulin-specific chaperone E
NCBI Official Synonym Symbols
pmn; 2610206D02Rik; C530005D02Rik [Similar Products]
NCBI Protein Information
tubulin-specific chaperone E; tubulin-folding cofactor E; progressive motor neuropathy
UniProt Protein Name
Tubulin-specific chaperone E
UniProt Synonym Protein Names
Tubulin-folding cofactor E
UniProt Entry Name
TBCE_MOUSE
NCBI Summary for PMN
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]
UniProt Comments for PMN
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; axonogenesis; protein folding; adult locomotory behavior; muscle atrophy; microtubule cytoskeleton organization and biogenesis; post-chaperonin tubulin folding pathway; peripheral nervous system neuron axonogenesis; post-embryonic development
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Products associated with PMN elisa kit
Pathways associated with PMN elisa kit
Diseases associated with PMN elisa kit
Organs/Tissues associated with PMN elisa kit
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