From NCBI Gene: Kenny-Caffey syndrome type 1Hypoparathyroidism retardation dysmorphism syndromeFrom UniProt: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD): Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. [MIM:241410] Kenny-Caffey syndrome 1 (KCS1): An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. [MIM:244460]

     From NCBI Gene: Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] From UniProt: 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.

The following transcription factors affect gene expression:

• p53
• GATA-1
• Brachyury
• p300
• USF1
• Sox5
• USF-1

Molecular Function:

• Chaperone Binding

Biological Processes:

• Adult Locomotory Behavior
• Developmental Growth
• Microtubule Cytoskeleton Organization
• Muscle Atrophy
• Peripheral Nervous System Neuron Axonogenesis
• Post-Chaperonin Tubulin Folding Pathway
• Post-Embryonic Development
• Protein Folding