Type | Description |
---|---|
Definition | 5'-aminolevulinate synthase 2 |
Date | Results | Publications |
---|---|---|
2021-01-23 12:57:00 | Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia. | 32297424 |
2020-10-24 14:13:00 | [Knockdown of ALAS2 Affects Erythroid Differentiation by Down-regulating Mitophagy Receptor BNIP3L]. | 33067979 |
2020-08-22 15:28:00 | Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. | 32499479 |
2020-05-30 11:59:00 | In erythropoietic protoporphyria, ALAS2 mRNA was increased both in absolute terms and in relation to deficiency in ferrochelatase mRNA as shown in this study. | 31076252 |
2020-02-08 11:36:00 | A novel mutation, c.1108G > A (p.A370T, NM_000032), was found in the ALAS2 gene located in exon 8. A mother with X-linked sideroblastic anemia and her so-far asymptomatic daughter were heterozygous for this mutation. | 31848684 |
Type | IDs |
---|---|
Synonymous | ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA |
Gene |
UniProtKB-ID:
HEM0_HUMAN
UniprotKB:
P22557
UniParc:
UPI000013F1FF,
UPI000012C3FE,
UPI000255FF42,
UPI00001AFD0E
EMBL:
AK313118,
CH471154,
AL020991,
AK291589,
AK290565,
AF068624,
Z83821,
X56352,
BC030230,
X60364
Ensembl:
ENSG00000158578
KO:
hsa:212
|
Nucleutide sequences |
EMBL-CDS:
EAW93211.1,
BAG35939.1,
AAC39838.1,
EAW93213.1,
CAA42916.1,
AAH30230.2,
BAF84278.1,
CAA39795.1,
BAF83254.1
Ensembl_TRS:
ENST00000650242,
ENST00000335854,
ENST00000396198
|
Protein sequencees |
Ensembl_PRO:
ENSP00000497236,
ENSP00000379501,
ENSP00000337131
RefSeq:
NP_001033057.1,
NP_001033056.1,
NP_000023.2
|
Others |
UniRef100:
UniRef100_P22557
UniRef90:
UniRef90_P22557
UniRef50:
UniRef50_P22557
UniGene:
Hs.522666,
Hs.555936
CCDS:
CCDS14366.1,
CCDS43960.1,
CCDS35303.1
|
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Refseq |
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