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Details of ERCC4 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ERCC4 | ERCC11 | XPF | Q92889 | XPF_HUMAN
| O00140
| Q8TD83 | XFE progeroid syn |
Disease |
|---|
| Disease |
OMIM id |
| Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin |
in some cases |
XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies |
dwarfism |
Phenotypes
Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the central nervous system, Abnormality of the integument, Abnormality of the nervous system, Abnormality of the skin, All, Autosomal recessive inheritance, Cutaneous photosensitivity, Generalized abnormality of skin, Localized skin lesion, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the skin, Numerous pigmented freckles, Phenotypic abnormality, Skin papules.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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