Details of KRT16 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| KRT16 | KRT16A | P08779 | K1C16_HUMAN | 3868
| Q16402
| Q9UBG8 | type I cytoskeletal |
Disease |
|---|
| Disease |
OMIM id |
| 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) |
follicular hyperkeratosis |
Keratoderma |
non-epidermolytic |
Unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole |
148067 |
Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris. |
144200 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal immunoglobulin level, Abnormality of blood and blood-forming tissues, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of cellular immune system, Abnormality of head and neck, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of lymphocytes, Abnormality of oral mucosa, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of the face, Abnormality of the hand, Abnormality of the head, Abnormality of the immune system, Abnormality of the integument, Abnormality of the mouth, Abnormality of the oral cavity, Abnormality of the palm, Abnormality of the plantar skin of foot, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper limb, All, Autosomal dominant inheritance, Epidermal thickening, Follicular hyperkeratosis, Generalized abnormality of skin, Heterogeneous, Hypergammaglobulinemia, Hyperkeratosis, Ichthyosiform abnormality of the skin, Increased IgE level, Localized epidermolytic hyperkeratosis, Mode of inheritance, Nonepidermolytic palmoplantar keratoderma, Oral leukoplakia, Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Phenotypic abnormality, Plantar hyperkeratosis, Regional abnormality of skin, Thickened skin.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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