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
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
Created on 2021-07-19 18:09:05,
Last reviewed on (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.