Details of CTSD gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CTSD | CPSD | P07339 | CATD_HUMAN | 1509
| ENSG00000117984
| Cathepsin D
Cathepsin D light chain
Cathepsin D heavy chain | dementia |
Disease |
|---|
| Disease |
OMIM id |
| Neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative |
and clinically by seizures |
Phenotypes
"Intellectual disability, Abnormal axial skeleton morphology, Abnormal location of ears, Abnormal retinal pigmentation, Abnormality of central motor function, Abnormality of coordination, Abnormality of fontanelles, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the nasal bridge, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the outer ear, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the retinal pigment epithelium, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of vision, Age of onset, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Congenital onset, Functional respiratory abnormality, Hypertonia, Increased cerebral lipofuscin, Increased neuronal autofluorescent lipopigment, Intellectual disability, Low-set ears, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Neuronal loss in central nervous system, Onset, Onset and clinical course, Phenotypic abnormality, Premature closure of fontanelles, Respiratory insufficiency, Retinal atrophy, Retinitis pigmentosa, Rigidity, Seizures, Sloping forehead, Spasticity, Status epilepticus, Visual impairment, Visual loss, Wide nasal bridge.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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