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Browse result for Joubert syndrome

※ introduction

    Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.

Reference
Wiki: Joubert syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02505O1507880184
CEP290
Centrosomal protein of 290 kDa
Homo sapiens
PTMD03158O756658481
OFD1
Centriole and centriolar satellite protein OFD1
Homo sapiens
PTMD07251Q2MV5879600
TCTN1
Tectonic-1
Homo sapiens
PTMD07343Q3SXY820089
ARL13B
ADP-ribosylation factor-like protein 13B
Homo sapiens
PTMD07568Q5HYA891147
TMEM67
Meckelin
Homo sapiens
PTMD07996Q68CZ123322
RPGRIP1L
Protein fantom
Homo sapiens
PTMD08790Q7Z3E580210
ARMC9
LisH domain-containing protein ARMC9
Homo sapiens
PTMD08836Q7Z4L579809
TTC21B
Tetratricopeptide repeat protein 21B
Homo sapiens
PTMD09435Q8IYI614937
EXOC8
Exocyst complex component 8
Homo sapiens
PTMD09564Q8N15754806
AHI1
Jouberin
Homo sapiens
PTMD09846Q8N96015324
CEP120
Centrosomal protein of 120 kDa
Homo sapiens
PTMD09981Q8NCN555066
PDPR
Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial
Homo sapiens
PTMD10665Q8WXW310464
PIBF1
Progesterone-induced-blocking factor 1
Homo sapiens
PTMD10987Q96AJ123059
CLUAP1
Clusterin-associated protein 1
Homo sapiens
PTMD11670Q96Q4565062
TMEM237
Transmembrane protein 237
Homo sapiens
PTMD12207Q9BVV69786
KIAA0586
Protein TALPID3
Homo sapiens
PTMD12890Q9H79965250
CPLANE1
Ciliogenesis and planar polarity effector 1
Homo sapiens
PTMD13244Q9NPI051524
TMEM138
Transmembrane protein 138
Homo sapiens
PTMD13394Q9NRR656623
INPP5E
Phosphatidylinositol polyphosphate 5-phosphatase type IV
Homo sapiens
PTMD13656Q9NXB054903
MKS1
Tectonic-like complex member MKS1
Homo sapiens
PTMD13943Q9P2K157545
CC2D2A
Coiled-coil and C2 domain-containing protein 2A
Homo sapiens
PTMD14849Q9Y4F423116
TOGARAM1
TOG array regulator of axonemal microtubules protein 1
Homo sapiens