K2C6A_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT6A
, K6A, KRT6D
Protein names and data:
K2C6A_HUMAN
, Keratin, type II cytoskeletal 6A
, Cytokeratin-6A; CK-6A; Cytokeratin-6D; CK-6D; Keratin-6A; K6A; Type-II keratin Kb6; Hom s 5
Lenght: 564 a.a.
Mass: 60045 Da
fasta formatted sequence
Disease:
( OMIM:
148041
167200
)
Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
Genetic variants
21 - 21
N -> S (in dbSNP:rs17845411). VAR_021264
17845411
111 - 111
G -> D (in dbSNP:rs681063). VAR_035030
681063
171 - 171
Missing (in PC1). VAR_003878
174 - 174
F -> V (in PC1; dbSNP:rs28933087). VAR_017075
28933087
469 - 469
L -> R (in PC1; dbSNP:rs57052654). VAR_017076
57052654
472 - 472
E -> K (in PC1; dbSNP:rs60554162). VAR_017077
60554162
Database cross-references
UniProt:
P02538
Ensembl:
ENST00000330722
MIM:
148041
MIM:
167200
neXtProt:
NX_P02538
Antibodypedia:
P02538
(may not find the protein thus also not any antibody)
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