| Symbol |
Name |
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ANO10
|
anoctamin 10
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APTX
|
aprataxin
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATXN10
|
ataxin 10
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CUL4B
|
cullin 4B
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
FGF14
|
fibroblast growth factor 14
|
|
FMR1
|
fragile X mental retardation 1
|
|
FXN
|
frataxin
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KIF1C
|
kinesin family member 1C
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
OPHN1
|
oligophrenin 1
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDYN
|
prodynorphin
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SACS
|
sacsin molecular chaperone
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
TBP
|
TATA box binding protein
|
|
TCF4
|
transcription factor 4
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TH
|
tyrosine hydroxylase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
WWOX
|
WW domain containing oxidoreductase
|
