CPT1C

CPT1C (Carnitine Palmitoyltransferase 1C) is a Protein Coding gene. Diseases associated with CPT1C include Spastic Paraplegia 73, Autosomal Dominant. Among its related pathways are AMPK Enzyme Complex Pathway and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1A.

Full Name

Carnitine Palmitoyltransferase 1C

Function

May play a role in lipid metabolic process.

Biological Process

Carnitine metabolic process Source: GO_Central
Fatty acid beta-oxidation Source: UniProtKB-UniPathway
Fatty acid metabolic process Source: GO_Central
Regulation of postsynaptic membrane neurotransmitter receptor levels Source: Ensembl

Cellular Location

Endoplasmic reticulum; Mitochondrion outer membrane; Synapse; Dendrite; Axon. Localized in the soma and dendritic and axonal projections.

Involvement in disease

Spastic paraplegia 73, autosomal dominant (SPG73):
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.

Topology

Cytoplasmic: 1-52
Helical: 53-75
Mitochondrial intermembrane: 76-103
Helical: 104-126
Cytoplasmic: 127-803