Gene: [17p11/ACADVL] acyl-Coenzyme A dehydrogenase, very long chain; hypoketotic hypoglycemia due to VLCAD deficiency;
COM | Aoyama-1996 assigned the ACADVL gene to Chr 17p13 and Andresen-1996 mapped the gene to Chr 17p11.2-.1." |
FAG | See GEM:01p31/ACADM. |
HET | See GEM:01p31/ACADM. |
REF | COD,SEQ,LOC,PAT,MUT "Andresen BS &: Hum Mol Genet, 5, 461-472,
1996 LOC "Aoyama T &: Genomics, 37, N1, 144-145, 1996 COD,SEQ,PAT,MUT "Aoyama T &: AJHG, 57, 273-283, 1995a MOP,PAT,EXP "Aoyama T &: J Clin Invest, 95, 2465-2473, 1995b PAT,MOP,EXP "Aoyama T &: BBRC, 191, N3, 1369-1372, 1993 PAT,MOP,EXP "Bertrand C &: BBA, 1180, N3, 327-329, 1993 PAT,HET "Ogilvie I &: Neurology, 44, N3, 467-473, 1994 COD,MUT,PAT "Souri M &: AJHG, 58, 97-106, 1996 COD,MUT,PAT "Strauss AW &: PNAS, 92, N23, 10496-10500, 1995 |
SWI | SWISSPROT: P49748 |
KEY | lip, neu, mtbd, mito |
CLA | coding, basic |
LOC | 17 p11.2-.1 |
MIM | MIM: 201475 |
EZN | ENZYME: 1.3.99.13 |
