GeneID: 460



Names

Common Name: BCL2A1 Type: Gene
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

IthaScore

Sequence Viewer

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Publications / Origin

  1. 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
Created on 2021-11-03 09:52:36, Last reviewed on 2021-11-03 09:53:18 (Show full history)


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