KRT6C
entrez
286887
canonical
uniprot
P48668
canonical
ensembl
ENSG00000170465
resolver
ensp
ENSP00000252250
resolver
enst
ENST00000252250
resolver
genesymbol
KRT6C
resolver
genesymbol_syn
KRT6E
resolver
hgnc
HGNC:20406
resolver
uniprot
A1L4L5
resolver
uniprot
P48666
resolver
uniprot
Q2TAZ9
resolver
uniprot
Q7RTN9
resolver
uniprot_entry
K2C6C_HUMAN
resolver
uniprot_sec
A1L4L5
resolver
uniprot_sec
P48666
resolver
uniprot_sec
Q2TAZ9
resolver
uniprot_sec
Q7RTN9
resolver
amino_acid_sequence
MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCASLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNVSVVQSTISSGYGGASGVGSGLGLGGGSSYSYGSGLGIGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRKSYKH
uniprot
proteins
disease_involvement
DISEASE: Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735]: A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. {ECO:0000269|PubMed:19609311, ECO:0000269|PubMed:21801157, ECO:0000269|PubMed:23662636}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins, likely including KRT16 and KRT17, assembling keratin intermediate filament networks that contribute to the structural framework and mechanical resilience of stratified epithelia, particularly in palmoplantar epidermis. {ECO:0000269|PubMed:19609311}.
uniprot
proteins
mass_dalton
60025
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
11683385
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19609311
uniprot
proteins
pubmed
21801157
uniprot
proteins
pubmed
23662636
uniprot
proteins
pubmed
7543104
uniprot
proteins
pubmed
9054461
uniprot
proteins
sequence_length
564
uniprot
proteins