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O95678 Proteins with novel repeats
Uniprot ID:O95678
Gene name: KRT75 K6HF KB18
Protein Family:Intermediate filament family
Protein name: "Keratin, type II cytoskeletal 75 "
Length : 551
Sequnce
>O95678 552 MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH
Repeated Sequence regions
Length: 15 residues : 2 times from 506 to 541 :0.7 region Length:36 TSGGHSLGAGLGGS-GFS-A TSN-RGLG-GSGSSVKFVST
Domains
DOMAIN 149 462 IF rod
Function
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle
Disease
"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 Note=The disease may be caused by mutations affecting the gene represented in this entry"