Details of ERCC3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ERCC3 | XPB | XPBC | P19447 | ERCC3_HUMAN
| 4ERN
4ERN
| ENSG00000163161 | mental retardation |
Disease |
|---|
| Disease |
OMIM id |
| Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin |
in some cases |
Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur- deficient brittle hair and nails |
mental retardation |
Phenotypes
Abnormal axial skeleton morphology, Abnormal immunoglobulin level, Abnormal joint morphology, Abnormality of blood and blood-forming tissues, Abnormality of adipose tissue, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of body height, Abnormality of body weight, Abnormality of cell physiology, Abnormality of cellular immune system, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of coordination, Abnormality of genital physiology, Abnormality of globe size, Abnormality of hair texture, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of joint mobility, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of peripheral nerve conduction, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin physiology, Abnormality of skin pigmentation, Abnormality of skull size, Abnormality of subcutaneous fat tissue, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the basal ganglia, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the lens, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nail, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Aged leonine appearance, All, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the skin, Asthma, Ataxia, Autosomal recessive inheritance, Basal cell carcinoma, Basal ganglia calcification, Cataract, Cerebellar atrophy, Cerebral calcification, Cognitive impairment, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Decreased body weight, Decreased nerve conduction velocity, Decreased subcutaneous fat, Dermal atrophy, Ectopic calcification, Epidermal thickening, Erythroderma, Flexion contracture, Fragile nails, Freckling, Functional abnormality of the inner ear, Gastrointestinal obstruction, Generalized abnormality of skin, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hyperreflexia, Hypogammaglobulinemia, Hypogonadism, Ichthyosiform abnormality of the skin, IgG deficiency, Immunologic hypersensitivity, Increased cellular sensitivity to UV light, Inflammatory abnormality of the skin, Intellectual disability, Intestinal obstruction, Lack of subcutaneous fatty tissue, Localized skin lesion, Melanoma, Microcephaly, Microphthalmos, Mode of inheritance, Morphological abnormality of the central nervous system, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the skin, Optic atrophy, Phenotypic abnormality, Pigmentary retinopathy, Prematurely aged appearance, Puberty and gonadal disorders, Recurrent infections, Sensorineural hearing impairment, Short stature, Small for gestational age, Squamous cell carcinoma, Thickened skin, Ventriculomegaly.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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