| Type | Description |
|---|---|
| Definition | SPG7 matrix AAA peptidase subunit, paraplegin |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 12:26:00 | we identified novel variants of SPG7 in two patients with late onset hereditary spastic paraplegias | 30747022 |
| 2020-06-27 11:06:00 | This finding of a missense mutation of SPG7 gene in a primary lateral sclerosis family expands the spectrum of known SPG7 mutations | 31117107 |
| 2020-01-04 11:26:00 | study provides evidence for two novel candidate genes, SPG7 and RASGEF1B, associating with white coat effect | 31044621 |
| 2019-12-28 10:51:00 | This is the largest spastic paraplegia 7 cohort study to date and shows a spasticity-predominant phenotype of loss-of-function variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant. | 31068484 |
| 2019-10-12 11:37:00 | Data report here co-occurrence of a heterozygous de novo AFG3L2 missense mutation (p.R468C) and a maternally inherited heterozygous intragenic deletion of SPG7 in a patient with a complex ataxic and extrapyramidal phenotype with early-onset optic atrophy. | 30252181 |
| Type | IDs |
|---|---|
| Synonymous | CAR, CMAR, PGN, SPG5C |
| Gene |
UniProtKB-ID:
SPG7_HUMAN,
A0A2R8Y632_HUMAN
UniprotKB:
Q9UQ90,
A0A2R8Y632
UniParc:
UPI0000031FAA,
UPI000387B1C0,
UPI000023360D
EMBL:
AC092123,
AF080522,
AF080516,
AF080513,
BC035929,
AF080517,
AF080518,
AF080519,
AF080525,
AF080524,
AF080521,
BC110530,
AF080512,
AF080520,
AF080515,
BC007692,
Y16610,
AF080523,
BC036104,
AF080514,
BC110531,
AF080511
Ensembl:
ENSG00000197912
KO:
hsa:6687
|
| Nucleutide sequences |
EMBL-CDS:
CAA76314.1,
AAH35929.1,
AAH36104.1,
AAD28099.1
Ensembl_TRS:
ENST00000645818,
ENST00000646263,
ENST00000341316,
ENST00000646930
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000494119,
ENSP00000341157,
ENSP00000495795,
ENSP00000495219
RefSeq:
NP_003110.1,
XP_016879086.1,
NP_001350779.1,
NP_955399.1,
XP_016879087.1,
XP_005256378.1
|
| Others |
UniRef100:
UniRef100_A0A2R8Y632,
UniRef100_Q9UQ90
UniRef90:
UniRef90_Q9UQ90-2,
UniRef90_Q9UQ90
UniRef50:
UniRef50_Q9UQ90,
UniRef50_Q9UQ90-2
UniGene:
Hs.185597
CCDS:
CCDS10978.1,
CCDS10977.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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