SLC18A3 gene

solute carrier family 18 member A3

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

From NCBI Gene:

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

From UniProt:

Involved in acetylcholine transport into synaptic vesicles.

From NCBI Gene:

  • MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC

From UniProt:

Myasthenic syndrome, congenital, 21, presynaptic (CMS21): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients. [MIM:617239]

Cytogenetic Location: 10q11.23, which is the long (q) arm of chromosome 10 at position 11.23

Molecular Location: base pairs 49,610,301 to 49,612,720 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q11.23, which is the long (q) arm of chromosome 10 at position 11.23
  • CMS21
  • VACHT