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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 | 2072
| ENSG00000175595
| DNA repair endonuclease XPF | SPROT |
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, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. Note=The disease is caused by mutations affecting the gene represented in this entry. |
278760 |
XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610965 |
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.
