LOVD SLC22A5 homepage

General information
Gene name Solute carrier family 22 (organic cation/carnitine transporter), member 5
Gene symbol SLC22A5
Chromosome Location 5q23.3
Database location genome.igib.res.in
Curator Ruchika Sahajpal and Sweety Raj
Date of creation December 10, 2010
Last update October 13, 2012
Version SLC22A5 121013
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Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
NOTE The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation and later in life by skeletal myopathy or cardiomyopathy

Links to other resources
Homepage http://fishmap2.igib.res.in/tblovd
External link #1 Ensembl
External link #2 Genecards
External link #3 UCSC
Entrez Gene 6584
OMIM - Gene 603377
HGMD SLC22A5
GeneTests SLC22A5