KRT75
entrez
9119
canonical
uniprot
O95678
canonical
ensembl
ENSG00000170454
resolver
ensp
ENSP00000252245
resolver
enst
ENST00000252245
resolver
genesymbol
KRT75
resolver
genesymbol_syn
K6HF
resolver
genesymbol_syn
KB18
resolver
hgnc
HGNC:24431
resolver
uniprot
B4DQU4
resolver
uniprot
Q9NSA9
resolver
uniprot_entry
K2C75_HUMAN
resolver
uniprot_sec
B4DQU4
resolver
uniprot_sec
Q9NSA9
resolver
amino_acid_sequence
MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH
uniprot
proteins
disease_involvement
DISEASE: Loose anagen hair syndrome (LAHS) [MIM:600628]: In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. {ECO:0000269|PubMed:11939812}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
uniprot
proteins
mass_dalton
59560
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10692104
uniprot
proteins
pubmed
11939812
uniprot
proteins
pubmed
14675170
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15086549
uniprot
proteins
pubmed
15292489
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18032949
uniprot
proteins
pubmed
9856802
uniprot
proteins
sequence_length
551
uniprot
proteins