KRT12
entrez
3859
canonical
uniprot
Q99456
canonical
ensembl
ENSG00000187242
resolver
ensembl
ENSG00000263243
resolver
ensp
ENSP00000251643
resolver
ensp
ENSP00000459559
resolver
enst
ENST00000251643
resolver
enst
ENST00000572470
resolver
genesymbol
KRT12
resolver
hgnc
HGNC:6414
resolver
uniprot
B2R9E0
resolver
uniprot_entry
K1C12_HUMAN
resolver
uniprot_sec
B2R9E0
resolver
amino_acid_sequence
MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM
uniprot
proteins
disease_involvement
DISEASE: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10612503, ECO:0000269|PubMed:10644419, ECO:0000269|PubMed:10781519, ECO:0000269|PubMed:12543196, ECO:0000269|PubMed:15148206, ECO:0000269|PubMed:16227835, ECO:0000269|PubMed:16352477, ECO:0000269|PubMed:17653038, ECO:0000269|PubMed:18245975, ECO:0000269|PubMed:18661274, ECO:0000269|PubMed:20577595, ECO:0000269|PubMed:23222558, ECO:0000269|PubMed:24099278, ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:30535821, ECO:0000269|PubMed:9171831, ECO:0000269|PubMed:9399908}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in the corneal epithelium. Forms heteropolymers with the type II keratin KRT3, assembling into keratin intermediate filament networks that provide mechanical strength and structural integrity to the corneal epithelial layer. {ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:9171831}.
uniprot
proteins
mass_dalton
53511
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10612503
uniprot
proteins
pubmed
10644419
uniprot
proteins
pubmed
10781519
uniprot
proteins
pubmed
12543196
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15148206
uniprot
proteins
pubmed
16227835
uniprot
proteins
pubmed
16352477
uniprot
proteins
pubmed
17653038
uniprot
proteins
pubmed
18245975
uniprot
proteins
pubmed
18661274
uniprot
proteins
pubmed
20577595
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23222558
uniprot
proteins
pubmed
24099278
uniprot
proteins
pubmed
26758872
uniprot
proteins
pubmed
30535821
uniprot
proteins
pubmed
8759347
uniprot
proteins
pubmed
9171831
uniprot
proteins
pubmed
9399908
uniprot
proteins
sequence_length
494
uniprot
proteins