Panel 5: Metabolism complex molecules


Includes:

Peroxisomal lysosomal and metabolism, as well as defects in the metabolism of cholesterol and bile acids

NMG5: Metabolism complex molecules

NMG5_1: Lysosomal diseases

NMG5_2: Peroxisomal diseases

NMG5_3: Neuronal ceroid lipofuscinosis

NMG5_4: Cholesterol Metabolism

NMG5_5: Bile acid metabolism

Included genes:

SMPD1 SUMF1 FUCA1 PEX6
NPC1 IDUA NEU1 PEX7
NPC2 IDS GNPTAB PEX10
LIPA SGSH GNPTG PEX11B
GLB1 NAGLU MCOLN1 PEX12
HEXA HGSNAT AGA PEX13
HEXB RAB33B GNE PEX14
GM2A DYM SLC17A5 PEX16
GLA GNS NAGA PEX19
ARSA GALNS GAA PEX26
GALC GLB1 LAMP2 HSD17B4
PSAP ARSB PEX1 ABHD12
MAN2B1 GUSB PEX2 PEX7
MANBA HYAL1 PEX3 AGPS
CTSA ASAH1 PEX5 GNPAT
ABCD1 CYP7B1 SC5D MFSD8
ACOX1 AMACR CYP27A1 CLN8
HSD17B4 PPT1 DHCR7 CTSD
SCP2 TPP1 ABHD5 ATP13A2
ACAA1 CLN3 ALDH3A2 GRN
MVK CLN6 HSD3B7 CTSF
DHCR24 DNAJC5 AKR1D1 KCTD7
EBP CLN5  GBA