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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
Reference
Wiki: Joubert syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02505 | O15078 | 80184 | CEP290 | Centrosomal protein of 290 kDa | Homo sapiens |
| PTMD03158 | O75665 | 8481 | OFD1 | Centriole and centriolar satellite protein OFD1 | Homo sapiens |
| PTMD07251 | Q2MV58 | 79600 | TCTN1 | Tectonic-1 | Homo sapiens |
| PTMD07343 | Q3SXY8 | 20089 | ARL13B | ADP-ribosylation factor-like protein 13B | Homo sapiens |
| PTMD07568 | Q5HYA8 | 91147 | TMEM67 | Meckelin | Homo sapiens |
| PTMD07996 | Q68CZ1 | 23322 | RPGRIP1L | Protein fantom | Homo sapiens |
| PTMD08790 | Q7Z3E5 | 80210 | ARMC9 | LisH domain-containing protein ARMC9 | Homo sapiens |
| PTMD08836 | Q7Z4L5 | 79809 | TTC21B | Tetratricopeptide repeat protein 21B | Homo sapiens |
| PTMD09435 | Q8IYI6 | 14937 | EXOC8 | Exocyst complex component 8 | Homo sapiens |
| PTMD09564 | Q8N157 | 54806 | AHI1 | Jouberin | Homo sapiens |
| PTMD09846 | Q8N960 | 15324 | CEP120 | Centrosomal protein of 120 kDa | Homo sapiens |
| PTMD09981 | Q8NCN5 | 55066 | PDPR | Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial | Homo sapiens |
| PTMD10665 | Q8WXW3 | 10464 | PIBF1 | Progesterone-induced-blocking factor 1 | Homo sapiens |
| PTMD10987 | Q96AJ1 | 23059 | CLUAP1 | Clusterin-associated protein 1 | Homo sapiens |
| PTMD11670 | Q96Q45 | 65062 | TMEM237 | Transmembrane protein 237 | Homo sapiens |
| PTMD12207 | Q9BVV6 | 9786 | KIAA0586 | Protein TALPID3 | Homo sapiens |
| PTMD12890 | Q9H799 | 65250 | CPLANE1 | Ciliogenesis and planar polarity effector 1 | Homo sapiens |
| PTMD13244 | Q9NPI0 | 51524 | TMEM138 | Transmembrane protein 138 | Homo sapiens |
| PTMD13394 | Q9NRR6 | 56623 | INPP5E | Phosphatidylinositol polyphosphate 5-phosphatase type IV | Homo sapiens |
| PTMD13656 | Q9NXB0 | 54903 | MKS1 | Tectonic-like complex member MKS1 | Homo sapiens |
| PTMD13943 | Q9P2K1 | 57545 | CC2D2A | Coiled-coil and C2 domain-containing protein 2A | Homo sapiens |
| PTMD14849 | Q9Y4F4 | 23116 | TOGARAM1 | TOG array regulator of axonemal microtubules protein 1 | Homo sapiens |
