Entity Details

Primary name CL004_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NQ89
EntryNameCL004_HUMAN
FullNameProtein C12orf4
TaxID9606
Evidenceevidence at protein level
Length552
SequenceStatuscomplete
DateCreated2005-07-19
DateModified2021-06-02

Ontological Relatives

GenesC12orf4

GO terms

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GOName
GO:0005737 cytoplasm
GO:0043304 regulation of mast cell degranulation

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR019311 Protein of unknown function DUF2362FamilyFamily

Diseases

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Disease IDSourceNameDescription
618221 OMIMMental retardation, autosomal recessive 66 (MRT66)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. The disease is caused by variants affecting the gene represented in this entry.