GeneID: 252
Names
Common Name: | FAM221A | Type: | Gene |
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Chromosome: | 7 (NC_000007.14) | Locus: | N/A |
HUGO Symbol: | FAM221A | Full Name: | family with sequence similarity 221 member A |
Exons: | 7 | Introns: | 6 |
Description:
The FAM221A gene encodes a protein with prominent expression in the brain. It has been associated with neurodegenerative disorders like Parkinson's Disease and Alzheimer's Disease. A FAM221A variant has been associated with the total number of white blood cells and neutrophils in sickle cell anaemia, suggesting a potential role for this gene in haematopoiesis.
Synonyms: C7orf46 , DKFZp686F0810 , FLJ45875 , MGC72075
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
- Mariani E, Frabetti F, Tarozzi A, Pelleri MC, Pizzetti F, Casadei R, Meta-Analysis of Parkinson's Disease Transcriptome Data Using TRAM Software: Whole Substantia Nigra Tissue and Single Dopamine Neuron Differential Gene Expression., PLoS ONE, 11(9), e0161567, 2016 PubMed
- Thonberg H, Chiang HH, Lilius L, Forsell C, Lindström AK, Johansson C, Björkström J, Thordardottir S, Sleegers K, Van Broeckhoven C, Rönnbäck A, Graff C, Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene., Acta Neuropathol Commun, 5(1), 43, 2017 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2019-03-19 11:35:58 | The IthaGenes Curation Team | Created |