GeneID: 460
Names
Common Name: | BCL2A1 | Type: | Gene |
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Chromosome: | 15 (NC_000015.10) | Locus: | NG_029487.1 (BCL2A1) |
HUGO Symbol: | BCL2A1 | Full Name: | BCL2 related protein A1 |
Exons: | 2 | Introns: | 1 |
Description:
This gene encodes a member of the BCL-2 protein family. The members of this family act both as pro- and anti-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. N6-methyladenosine (m6A) is the most abundant internal modification of messenger RNA (mRNA). BCL2A1 mRNA is hypo-m6-A-methylated and has low expression in hemoglobin H Constant Spring (HbH-CS), the most common non-deletion form of the Haemoglobin H disease. It is proposed to play a role in the pathogenesis of disease whereby the severe down-regulation of BCL2A1 in HbH-CS patients leads to hemolytic anaemia.
Synonyms: GRS , ACC1 , ACC2 , BFL1 , ACC-1 , ACC-2 , HBPA1 , BCL2L5
Comments:
N/A
Number of entries/variants: 0
Sequence Viewer
Publications / Origin
- Ruan H, Yang F, Deng L, Yang D, Zhang X, Li X, Pang L, Human mA-mRNA and lncRNA epitranscriptomic microarray reveal function of RNA methylation in hemoglobin H-constant spring disease., Sci Rep, 11(1), 20478, 2021 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2021-11-03 09:52:36 | The IthaGenes Curation Team | Created |
2 | 2021-11-03 09:53:18 | The IthaGenes Curation Team | Reviewed. Links added. |