Gene: [06q2/PARK2] parkin; Parkinson disease, familial 2 (autosomal recessive); Parkinson disease, juvenile (PDJ; MIM:600116); [PDJ ]
|
COM |
[1] Locus for juvenile parkinsonism maps to 6q25.2-q27, as indicated by
linkage to markers D6S305 and D6S253 (Matsumine-1997).
[2] By positional cloning within this microdeletion, Kitada-1998 isolated a cDNA clone of 2,960 bp with a 1,395-bp open reading frame, encoding a protein of 465 amino acids with moderate similarity to ubiquitin (FAM:UBQ/00.0) at the amino terminus and with a RING-finger motif at the carboxy terminus." |
|
GEN |
The gene length: 500 kb; exons: 12 (Kitada-1998). |
|
FUN |
Parkin may function similarly to ubiquitin family members, and its defect in PDJ may interfere with the ubiquitin-mediated proteolytic pathway leading to the death of nigral neurons." |
|
REF |
COD,SEQ,MUT,PAT "Kitada T &: Nature, 392, 605-608, 1998 LIN,LOC,PAT "Matsumine H &: AJHG, 60, 588-596, 1997 |
|
KEY |
neu |
|
CLA |
unknown, basic |
|
LOC |
06 q25.2-27 |
|
MIM |
MIM: 602544 |
|
SYN |
PDJ |
Смотрите также:
