| Type | Description |
|---|---|
| Definition | FAM20A golgi associated secretory pathway pseudokinase |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 11:53:00 | Whole exome sequencing (WES) identified that Pt-1 was heterozygous for FAM20A, c.758A > G (p.Tyr253Cys), inherited from her father. The mutation on maternal allele was not detected by WES. Pt-2 possessed compound heterozygous mutations, c.1248dupG (p.Phe417Valfs*7); c.1081C > T (p.Arg361Cys) in FAM20A. | 32246227 |
| 2020-02-08 12:15:00 | Here we report the largest series of patients with Enamel renal syndrome in a same population, and describe, for the first time, a founder mutation for FAM20A. | 30394349 |
| 2019-12-21 11:54:00 | Mutations in LAMB3 and FAM20A were found in 3 Turkish families with Amelogenesis imperfecta | 30120606 |
| 2019-11-02 13:30:00 | Recessive FAM20A mutations can cause nephrocalcinosis in addition to the oral phenotype | 29439260 |
| 2019-06-22 11:20:00 | Physicochemical analysis of human pulpal mineralization secondary to FAM20A mutations. | 29745815 |
| Type | IDs |
|---|---|
| Synonymous | AI1G, AIGFS, FP2747 |
| Gene |
UniProtKB-ID:
FA20A_HUMAN,
Q8IYA5_HUMAN,
L8B8N7_HUMAN,
B7Z4Y3_HUMAN
UniprotKB:
Q96MK3,
Q8IYA5,
L8B8N7,
B7Z4Y3
UniParc:
UPI000191503D,
UPI00001AE65B,
UPI000007429A
EMBL:
CH471099,
BC136689,
AB545606,
BC036222,
AK298071,
AC079210,
AY358197,
AK056789,
AL133105,
BC136686
Ensembl:
ENSG00000108950
KO:
hsa:54757
|
| Nucleutide sequences |
EMBL-CDS:
BAB71285.1,
AAI36690.1,
AAI36687.1,
CAB61412.1,
AAQ88564.1,
AAH36222.1,
BAM78535.1,
EAW89066.1,
BAH12719.1
Gene_ORFName:
UNQ9388/PRO34279,
hCG_1986249
Ensembl_TRS:
ENST00000592554
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000468308
RefSeq:
NP_001230675.1,
XP_011523220.1,
NP_060035.2,
XP_016880270.1,
XP_006722022.1
|
| Others |
UniRef100:
UniRef100_Q96MK3,
UniRef100_B7Z4Y3,
UniRef100_Q8IYA5
UniRef90:
UniRef90_G1QNQ2,
UniRef90_G7PV88,
UniRef90_Q96MK3
UniRef50:
UniRef50_G1QNQ2,
UniRef50_D2HSY0,
UniRef50_Q96MK3
UniGene:
Hs.268874
CCDS:
CCDS11679.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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