GeneID: 312
Names
| Common Name: | FAM193A | Type: | Gene |
|---|---|---|---|
| Chromosome: | 4 (NC_000004.12) | Locus: | NM_003704.3 (FAM193A) |
| HUGO Symbol: | FAM193A | Full Name: | family with sequence similarity 193 member A |
| Exons: | 19 | Introns: | 18 |
Description:
This gene is localised in the locus for Huntington's disease, yet no association with this disorder could be verified. Autoantibodies against res4‐22 (anti‐res4‐22), mainly of the immunoglobulin (Ig)A type, were detected in patients with neurological disorders. Alternative splicing of this gene results in transcript variants encoding different isoforms. Genetic variance in RES4-22 gene associated with episodes of pain in patients with sickle cell disease.
Synonyms: RES4-22
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Hadano S, Ishida Y, Ikeda JE, The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3., DNA Res., 5(3), 177-86, 1998 PubMed
- Amin M, Uhlig HH, Kamprad M, Karbe J, Osman AA, Grahmann F, Hummelsheim H, Mothes T, Neurological disease-associated autoantibodies against an unknown protein encoded by a RES4-22 homologous gene., Scand. J. Immunol., 53(2), 204-8, 2001 PubMed
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-11-26 16:54:05 | The IthaGenes Curation Team | Created |