| Type | Description |
|---|---|
| Definition | F-box and leucine rich repeat protein 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 13:05:00 | FBXL4 protein promotes mitochondrial fusion. The C584R FBXL4 variant cannot promote mitochondrial fusion. | 31442532 |
| 2019-01-19 10:48:00 | Study found a common genomic copy number loss at 6q16.1-16.2, containing the FBXL4 gene in prostate cancer bone metastases. Loss of FBXL4 was also detected in primary tumors and it was highly associated with prognostic factors including high Gleason score, PSA, as well as poor patient survival, suggesting that FBXL4 loss contributes to prostate cancer progression. | 28698647 |
| 2018-06-23 10:26:00 | Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease. | 28940506 |
| 2017-07-01 12:41:00 | Overall, FBXL4 defects account for at least 0.7% (6 out of 808) of subjects suspected to have a mitochondrial disorder, and as high as 14.3% (4 out of 28) in young children with congenital lactic acidosis and clinical features of mitochondrial disease. Including FBLX4 in the mitochondrial diseases panel should be particularly important for patients with congenital lactic acidosis | 27743463 |
| 2017-02-18 10:49:00 | On clinical indication of mitochondrial encephalomyopathy, sequencing of FBXL4 should be performed, even when the activity levels of the MRC enzymes are normal | 27182039 |
| Type | IDs |
|---|---|
| Synonymous | FBL4, FBL5, MTDPS13 |
| Gene |
UniProtKB-ID:
FBXL4_HUMAN
UniprotKB:
Q9UKA2
UniParc:
UPI000012ADE3
EMBL:
AF199355,
CH471051,
AF174590,
BC055010,
AL022395,
AF176699,
BC091484,
AK313076
Ensembl:
ENSG00000112234
KO:
hsa:26235
|
| Nucleutide sequences |
EMBL-CDS:
BAG35902.1,
AAH55010.1,
AAF04511.1,
EAW48490.1,
AAF03699.1,
EAW48489.1,
AAH91484.1,
AAF09247.1
Ensembl_TRS:
ENST00000229971,
ENST00000369244
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358247,
ENSP00000229971
RefSeq:
XP_011534050.1,
XP_016866215.1,
XP_005266987.1,
NP_001265645.1,
XP_016866217.1,
NP_036292.2,
XP_016866216.1
|
| Others |
UniRef100:
UniRef100_Q9UKA2
UniRef90:
UniRef90_Q9UKA2
UniRef50:
UniRef50_Q9UKA2
UniGene:
Hs.536850
CCDS:
CCDS5041.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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