CPT1C gene

carnitine palmitoyltransferase 1C

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

From UniProt:

May play a role in lipid metabolic process.

From NCBI Gene:

  • Spastic paraplegia 73, autosomal dominant

From UniProt:

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. [MIM:616282]

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33

Molecular Location: base pairs 49,690,672 to 49,713,731 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33
  • CATL1
  • CPT1-B
  • CPT1P
  • CPTI-B
  • CPTIC
  • SPG73