Symbol |
Name |
ABAT
|
4-aminobutyrate aminotransferase
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC6
|
excision repair cross-complementation group 6
|
FKRP
|
fukutin related protein
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
PEX5
|
peroxisomal biogenesis factor 5
|
PSAP
|
prosaposin
|
RAB27A
|
RAB27A, member RAS oncogene family
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
RNASEH2A
|
ribonuclease H2, subunit A
|
RNASEH2C
|
ribonuclease H2, subunit C
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|