| Type | Description |
|---|---|
| Definition | ALX homeobox 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-07-28 11:40:00 | Genome scan using 250k Nsp1 array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. This is the first mutation in the ALX3 gene, underlying frontorhiny, in Pakistani population. | 29215096 |
| 2012-12-08 10:07:00 | Exclusion of mutations in ALX3 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies | 22496059 |
| 2012-04-07 11:28:00 | We report a novel Y214X mutation in ALX3 in frontorhiny. | 22106187 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 20634891 |
| 2010-01-21 00:00:00 | Alx3 participates in the regulation of insulin gene expression in pancreatic beta-cells. | 16825292 |
| Type | IDs |
|---|---|
| Synonymous | FND, FND1 |
| Gene |
UniProtKB-ID:
ALX3_HUMAN
UniprotKB:
O95076
UniParc:
UPI000013DE5F
EMBL:
AF008202,
AL160006,
CH471122,
BC112007,
AF008203,
BC113428
Ensembl:
ENSG00000156150
KO:
hsa:257
|
| Nucleutide sequences |
EMBL-CDS:
AAD01417.2,
AAI12008.1,
AAD01418.1,
AAI13429.1,
EAW56430.1
Ensembl_TRS:
ENST00000647563
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497310
RefSeq:
NP_006483.2
|
| Others |
UniRef100:
UniRef100_O95076
UniRef90:
UniRef90_O95076
UniRef50:
UniRef50_O70137
UniGene:
Hs.669953
CCDS:
CCDS819.1
|
| {{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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