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54977 SLC25A38

54977

SLC25A38

solute carrier family 25 member 38

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 25 member 38

研究结论

Date Results Publications
2021-04-17 13:38:00 Dentate gyrus volume deficit in schizophrenia. 31155012
2021-03-20 13:28:00 Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent. 32605921
2021-01-09 13:32:00 Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. 32790119
2019-03-23 11:50:00 These findings suggest that sideroblastic anemia must be considered a possible etiology in cases with unexplained hemolytic anemia. Furthermore, mutations in SLC25A38 gene could be a prevalent cause of congenital sideroblastic anemia (CSA) in the Iranian population. 29499877
2018-08-25 11:51:00 report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications 28772256

名称对应

Type IDs
Synonymous SIDBA2
Gene
UniProtKB-ID: S2538_HUMAN, A1LP07_HUMAN
UniprotKB: Q96DW6, A1LP07
UniParc: UPI0000070F35
EMBL: AK000558, CH471055, CR457242, BC013194
Ensembl: ENSG00000144659
KO: hsa:54977
Nucleutide sequences
EMBL-CDS: AAH13194.1, BAA91253.1, CAG33523.1, EAW64581.1, EAW64580.1
Gene_ORFName: hCG_17021
Ensembl_TRS: ENST00000650617
Protein sequencees
Ensembl_PRO: ENSP00000497532
RefSeq: NP_001341727.1, NP_060345.2, XP_006713277.1, XP_024309379.1, XP_011532171.1
Others
UniRef100: UniRef100_Q96DW6
UniRef90: UniRef90_Q96DW6
UniRef50: UniRef50_Q96DW6
UniGene: Hs.369615
CCDS: CCDS2685.1

全选

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研究热度

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