| Type | Description |
|---|---|
| Definition | solute carrier family 25 member 46 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:37:00 | SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. | 32259769 |
| 2019-08-03 10:50:00 | Using exome sequencing, we identified biallelic disease-segregating loss-of-function mutations in SLC25A46 in both families. Our study adds to the definition of the SLC25A46-associated phenotypic spectrum that includes neonatal fatalities due to pontocerebellar hypoplasia as the severe extreme. | 28653766 |
| 2019-05-25 11:01:00 | Mutations in SLC25A46 were linked to three children in a Dutch family with pontocerebellar hypoplasia with spinal muscular dystrophy. | 28637197 |
| 2019-04-20 12:10:00 | Mutation in SLC25A46 (NM_001303249.2:c.775C>T;p.(Arg259Cys)) causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. | 28369803 |
| 2018-04-28 10:31:00 | This study reported a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46. | 28558379 |
| Type | IDs |
|---|---|
| Synonymous | HMSN6B |
| Gene |
UniProtKB-ID:
S2546_HUMAN,
B4DY98_HUMAN
UniprotKB:
Q96AG3,
B4DY98
UniParc:
UPI00000711AA,
UPI0000530A12,
UPI00003FF8B1,
UPI00017A7ECF
EMBL:
AK290217,
AK300123,
AK302326,
AC008650,
M74089,
AK091427,
CH471086,
BC017169
Ensembl:
ENSG00000164209
KO:
hsa:91137
|
| Nucleutide sequences |
EMBL-CDS:
BAF82906.1,
AAH17169.1,
BAG52358.1,
BAG61915.1,
EAW49041.1,
EAW49040.1,
AAA03587.1,
BAG63660.1
Ensembl_TRS:
ENST00000355943,
ENST00000504098,
ENST00000447245
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000425708,
ENSP00000399717,
ENSP00000348211
RefSeq:
NP_001290178.1,
NP_001290179.1,
NP_620128.1
|
| Others |
UniRef100:
UniRef100_Q96AG3,
UniRef100_B4DY98
UniRef90:
UniRef90_Q3TTH1,
UniRef90_Q96AG3
UniRef50:
UniRef50_Q3TTH1,
UniRef50_Q96AG3
UniGene:
Hs.75639
CCDS:
CCDS4100.1,
CCDS78045.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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