From NCBI Gene: Leukodystrophy, hypomyelinating, 4Spastic paraplegia 13From UniProt: Spastic paraplegia 13, autosomal dominant (SPG13): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [MIM:605280] Leukodystrophy, hypomyelinating, 4 (HLD4): A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life. [MIM:612233]

     From NCBI Gene: This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010] From UniProt: Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.

The following transcription factors affect gene expression:

• NF-kappaB
• PPAR-gamma1
• PPAR-gamma2
• NF-kappaB1
• C/EBPalpha
• Sp1
• STAT1
• STAT1beta
• STAT1alpha
• GATA-3

Molecular Function:

• Lipopolysaccharide Binding
• P53 Binding
• Dna Replication Origin Binding
• Single-Stranded Dna Binding
• Double-Stranded Rna Binding
• Atp Binding
• Atpase Activity
• Ubiquitin Protein Ligase Binding
• Poly(A) Rna Binding
• Unfolded Protein Binding
• Chaperone Binding

Biological Processes:

• B Cell Cytokine Production
• Myd88-Dependent Toll-Like Receptor Signaling Pathway
• Positive Regulation Of T Cell Mediated Immune Response To Tumor Cell
• 'De Novo' Protein Folding
• Activation Of Cysteine-Type Endopeptidase Activity Involved In Apoptotic Process
• Response To Unfolded Protein
• Response To Cold
• Viral Process
• Positive Regulation Of Interferon-Alpha Production
• Positive Regulation Of Interferon-Gamma Production
• Positive Regulation Of Interleukin-10 Production
• Positive Regulation Of Interleukin-12 Production
• Positive Regulation Of Interleukin-6 Production
• Protein Refolding
• B Cell Proliferation
• T Cell Activation
• B Cell Activation
• Positive Regulation Of Macrophage Activation
• Positive Regulation Of Apoptotic Process
• Negative Regulation Of Apoptotic Process
• Isotype Switching To Igg Isotypes
• Protein Stabilization
• Positive Regulation Of T Cell Activation
• Chaperone-Mediated Protein Complex Assembly
• Protein Maturation