GeneID: 441
Names
Common Name: | FCHSD2 | Type: | Gene |
---|---|---|---|
Chromosome: | 11 (NC_000011.10) | Locus: | NM_014824.3 (FCHSD2) |
HUGO Symbol: | FCHSD2 | Full Name: | FCH and double SH3 domains 2 |
Exons: | 20 | Introns: | 19 |
Description:
FCHSD2 encodes an adapter protein that plays a role in endocytosis via clathrin-coated pits and membrane receptor internalization. It is predicted to function in actin dynamics. Sequence variation in FCHSD2 associated with disease severity in β-thalassaemia/HbE in spite of inconsistent reports of statistical significance.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
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Publications / Origin
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
Created on 2021-07-19 18:09:05,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-07-19 18:09:05 | The IthaGenes Curation Team | Created |
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