Gene: [0Xq2/PLP] proteolipid protein (Pelizaeus-Merzbacher disease); Pelizaeus-Merzbacher disease (proteolipid protein); spastic paraplegia, uncomplicated (MIM:312920); [PMD SPG2 ]
|
GEN |
The gene length is 17 kb. Exons: 7; introns: 6. |
|
REF |
SEQ,GEN "Diehl H-J &: PNAS, 83, N24, 9807-9811, 1986 CLO,MUT,EXP,PAT "Fahim S, Riordan: J Neurosci Res, 16, 303-310, 1986 CAG "Saugier-Veber P &: Nature Genet, 6, 257-262, 1994 MOP "Stoffel &: PNAS, 81, 5012-5016, 1984 LOC "Willard &: CCG, 46, (HGM9), 716, 1987 LOC "Willard HF, Riordan: Science, 230, 940-942, 1985 POL,CLO "Wu JS &: NAR, 15, 1882, 1987 |
|
KEY |
neu, myo |
|
CLA |
coding, basic |
|
LOC |
0X q21.32-22 |
|
MIM |
MIM: 312080 |
|
SYN |
PMD SPG2 |
Ссылки:
- Gene: [0Xq28/L1CAM] L1 cell adhesion molecule; hydrocephalus, stenosis of the aqueduct of sylvius (MIM:307000); MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome (MIM:303350); Gareis-Mason syndrome (MIM:303350)
- Gene: [14q/SPG3A] spastic paraplegia 3A (autosomal dominant); [SPG3 ]
