| Type | Description |
|---|---|
| Definition | keratin 12 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-02 12:04:00 | We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity. | 30535821 |
| 2018-10-06 10:19:00 | RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations. | 29162348 |
| 2018-04-28 11:41:00 | KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD. | 28567551 |
| 2016-12-24 11:46:00 | we show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression | 26899008 |
| 2014-07-26 10:46:00 | Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals. | 24801514 |
| Type | IDs |
|---|---|
| Synonymous | K12 |
| Gene |
UniProtKB-ID:
K1C12_HUMAN
UniprotKB:
Q99456
UniParc:
UPI000012DAE4
EMBL:
AB007119,
AK313747,
D78367,
AF137286,
CH471152
Ensembl:
ENSG00000187242,
ENSG00000263243
KO:
hsa:3859
|
| Nucleutide sequences |
EMBL-CDS:
BAG36487.1,
AAF61432.1,
EAW60685.1,
BAA25063.1,
BAA11376.1
Ensembl_TRS:
ENST00000572470,
ENST00000251643
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000251643,
ENSP00000459559
RefSeq:
NP_000214.1
|
| Others |
UniRef100:
UniRef100_Q99456
UniRef90:
UniRef90_Q99456
UniRef50:
UniRef50_Q99456
UniGene:
Hs.66739
CCDS:
CCDS11378.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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