Gene: [21q221/HLCS] holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase); multiple carboxylase deficiency, neonatal form;


REF

PRO,LOC,EXP "Leon-Del-Rio A &: PNAS, 92, 4626-4630, 1995
PRO,LOC,EXP "Suzuki Y &: Nature Genet, 8, 122-128, 1994

SWI

SWISSPROT: P50747

KEY

vit

CLA

coding, basic

LOC

21 q22.1

MIM

MIM: 253270

EZN

ENZYME: 6.3.4.10