{ "uniprot_canonical_ac": "A0A1W2Q672-1", "uniprot_ac": "A0A1W2Q672", "uniprot_id": "A0A1W2Q672_RAT", "mass": { "chemical_mass": 40157.0, "monoisotopic_mass": 40157.0 }, "refseq": {}, "gene_names": [ { "name": "Cln5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A1W2Q672", "id": "A0A1W2Q672" } ], "protein_names": [ { "name": "CLN5, intracellular trafficking protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A1W2Q672" } ], "function": [], "disease": [ { "disease_id": "DOID:0110728", "recommended_name": { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110728", "name": "neuronal ceroid lipofuscinosis 5", "description": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22." }, "synonyms": [ { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110728", "name": "CLN5", "description": "" }, { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110728", "name": "neuronal ceroid lipofuscinosis 5 variable age of onset", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis 5", "description": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "ceroid lipofuscinosis, neuronal, type 5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis 5 variable age of onset", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis type 5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, adult", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, juvenile", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, late infantile (subtype)", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "Finnish Vlincl", "description": "" }, { "id": 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