Gene: [05q31/SLC22A5] solute carrier family 22 (organic cation transporter), member 5; carnitine transporter, membrane; carnitine deficiency, systemic primary (MIM:212140); [OCTN2 CDSP ]


REF

PAT,MUT "Lamhonwah &: BBRC, 252, 396, 1998
PAT,LOC "Shoji Y &: AJHG, 63, 101-108, 1998
COD,SEQ,EXP,MEB "Tamai I &: JBC, 273, N32, 20378-20382, 1998
COD,LOC "Wu X &: BBRC, 246, 589-595, 1998

KEY

ion, trp, mtbd

CLA

coding, basic

LOC

05 q31

MIM

MIM: 603377

SYN

OCTN2 CDSP