| Type | Description |
|---|---|
| Definition | peroxisomal biogenesis factor 10 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-31 10:11:00 | Collectively, the rs2477686 in PEX10 , rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene may indeed be the genetic risk factors for nonobstructive azoospermia (NOA), which requires further investigation using larger independent sets of samples in different ethnic populations. | 30863997 |
| 2017-04-15 11:53:00 | This study demonstrated that two mutations in PEX10 were found in the three peroxisomal biogenesis disorders patients: c.827G>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln. | 27230853 |
| 2015-06-20 10:56:00 | abnormal expression of PEX10 gene resulting from copy number variations of 1p36 region may be associated with the epilepsy phenotype | 25636090 |
| 2011-01-01 11:24:00 | child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, decreased vibration sense and cerebellar atrophy; 2 mutations in PEX10 found in child, c.992G>A and c.764_765insA, and in the adult, c.2T>C and c.790C>T | 20695019 |
| 2010-01-21 00:00:00 | Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. | 14713216 |
| Type | IDs |
|---|---|
| Synonymous | NALD, PBD6A, PBD6B, RNF69 |
| Gene |
UniProtKB-ID:
PEX10_HUMAN,
A0A024R0A4_HUMAN,
A0A024R068_HUMAN
UniprotKB:
O60683,
A0A024R0A4,
A0A024R068
UniParc:
UPI00001316FB,
UPI000002B0DD
EMBL:
AF060502,
AL513477,
CH471183,
BC000543,
BC018198,
AK124816,
AB013818
Ensembl:
ENSG00000157911
KO:
hsa:5192
|
| Nucleutide sequences |
EMBL-CDS:
AAH00543.1,
AAH18198.1,
BAG54100.1,
BAA87895.1,
EAW56105.1,
AAC18133.1,
EAW56108.1,
EAW56107.1,
EAW56106.1
Gene_ORFName:
hCG_1770744,
hCG_1770744
Ensembl_TRS:
ENST00000447513,
ENST00000288774
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000407922,
ENSP00000288774
RefSeq:
XP_011539878.1,
NP_722540.1,
NP_002608.1,
NP_001361356.1,
NP_001361354.1,
NP_001361355.1
|
| Others |
UniRef100:
UniRef100_O60683,
UniRef100_A0A024R0A4
UniRef90:
UniRef90_O60683
UniRef50:
UniRef50_O60683
UniGene:
Hs.732228
CCDS:
CCDS44045.1,
CCDS41.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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