Detailed description page of humcfs

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MVK details
Primary information
gene_nameMVK
Humcfs IdHumcfs_3555
chromosome_numberchromosome12
nameFRA12E
chrlocation109000001-133851895
cytoband12q24
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000110921
havana_transcript_idOTTHUMT00000403142
gene_location109573805-109596677
gene_orientation+
exon_idENSE00002217215, ENSE00002327395, ENSE00003490756, ENSE00003522797, ENSE00002310605
exon_number5
gene_descriptionmevalonate kinase
disease_descriptionDeficiency of mevalonate kinase,Dysmorphic features,Colorectal Cancer,Retinitis Pigmentosa,Diarrhea,Aphthous Stomatitis,Narcolepsy,Hereditary Autoinflammatory Diseases,Exanthema,Cryopyrin-Associated Periodic Syndromes,Pyogenic Arthritis, Pyoderma Gangrenosum and Acne,Malignant neoplasm of breast,Fever,Pain,Hyper-IgD periodic fever syndrome (HIDS),Behcet Syndrome,Porokeratosis, Disseminated Superficial Actinic,Hypertriglyceridemia,Dyserythropoietic anemia,Mental Retardation,POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1,Mevalonic Aciduria,Periodic fever,Diabetes Mellitus, Non-Insulin-Dependent,Hypertriglyceridemia result,Porokeratosis,Liver carcinoma,Arthralgia,Irritable Bowel Syndrome,Inborn Errors of Metabolism,Hyperlipidemia,Hyperimmunoglobulinemia D,Dermatologic disorders,Leukemia, Myelocytic, Acute,Colorectal Carcinoma,Hepatitis B,Familial Mediterranean Fever,Amyloidosis,Cerebellar Ataxia,Dyslipidemias,Septicemia,Relapsing Fever,Porokeratosis of Mibelli,Acute Myeloid Leukemia,
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID14526166
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