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