- with Malonyl-CoA
decarboxylase deficiency. In humans, it is
encoded by the
MLYCD gene. Its main
function is to
catalyze the
conversion of malonyl-CoA into...
- {\xrightarrow[{ACSF3}]{Malonyl{-}CoA\ Synthetase}}\ Malonyl{-}CoA\ {\xrightarrow[{
MLYCD}]{Malonyl-CoA\ Decarboxylase}}\ Acetyl{-}CoA} } MCAT (gene)
Nelson D, Cox...
- Q9UH92 9645
MLXIP HGNC:17055 Q9HAP2 9646
MLXIPL HGNC:12744 Q9NP71 9647
MLYCD HGNC:7150 O95822 9648 MMAA HGNC:18871 Q8IVH4 9649 MMAB HGNC:19331 Q96EY8...
-
recessive 1:30,000
Combined malonic and
methylmalonic aciduria (CMAMMA)
MLYCD recessive Congenital muscular dystrophy-infantile cataract-hypogonadism...
-
Methylmalonic acidemia and homocystinuria, cblF type <1:1,000,000
Childhood MLYCD 248360
Malonic aciduria <1:1,000,000
Childhood MMACHC, PRDX1 cblC 277400...
-
feature of
malonic aciduria.
Malonic aciduria is
caused by
mutations in the
MLYCD gene,
located on
chromosome 16q23.3. The gene
encodes the
enzyme malonyl-CoA...
- 614265; ACSF3
Combined malonic and
methylmalonic aciduria (CMAMMA); 248360;
MLYCD Combined oxidative phosphorylation deficiency 1; 609060; GFM1
Combined oxidative...
