| Type | Description |
|---|---|
| Definition | major facilitator superfamily domain containing 8 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-28 10:44:00 | that MFSD8-associated lysosomal dysfunction may contribute to frontotemporal lobar degeneration pathology | 30382371 |
| 2020-03-14 10:59:00 | Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement. | 31006324 |
| 2019-04-20 12:20:00 | We identified a novel homozygous mutation in MFSD8 gene. | 30144815 |
| 2019-02-16 11:04:00 | Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder | 29514215 |
| 2017-07-22 11:48:00 | This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. | 28586915 |
| Type | IDs |
|---|---|
| Synonymous | CCMD, CLN7 |
| Gene |
UniProtKB-ID:
MFSD8_HUMAN,
A0A286YFM2_HUMAN,
A0A286YF73_HUMAN,
A0A286YF72_HUMAN
UniprotKB:
Q8NHS3,
A0A286YFM2,
A0A286YF73,
A0A286YF72
UniParc:
UPI0007DC52BE,
UPI000004DAF1,
UPI000387C2E2,
UPI000387C07F,
UPI0001914D50
EMBL:
AK315596,
AK074564,
AC099340,
AK294184,
BC029503,
CH471056
Ensembl:
ENSG00000164073
KO:
hsa:256471
|
| Nucleutide sequences |
EMBL-CDS:
BAG37968.1,
AAH29503.1,
BAH11691.1,
EAX05195.1,
BAC11062.1
Ensembl_TRS:
ENST00000296468,
ENST00000641686,
ENST00000641464,
ENST00000641748,
ENST00000641434,
ENST00000641928,
ENST00000641092,
ENST00000641228,
ENST00000641482,
ENST00000641025,
ENST00000641590,
ENST00000642034
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493330,
ENSP00000493279,
ENSP00000296468,
ENSP00000493438,
ENSP00000493218,
ENSP00000493418,
ENSP00000493194,
ENSP00000493392,
ENSP00000493346,
ENSP00000493277,
ENSP00000493132,
ENSP00000493285
RefSeq:
XP_024309750.1,
NP_001358520.1,
NP_001358524.1,
XP_011530134.1,
XP_005262955.1,
NP_001358519.1,
NP_689991.1,
NP_001358521.1,
NP_001350450.1,
NP_001358525.1,
XP_016863478.1,
NP_001358522.1,
NP_001350449.1,
XP_024309751.1,
NP_001358523.1
|
| Others |
UniRef100:
UniRef100_A0A286YFM2,
UniRef100_Q8NHS3,
UniRef100_A0A286YF72,
UniRef100_A0A286YF73
UniRef90:
UniRef90_Q8NHS3,
UniRef90_A0A286YF73
UniRef50:
UniRef50_A0A286YF73,
UniRef50_Q8NHS3
UniGene:
Hs.480701
CCDS:
CCDS3736.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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