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6392 SDHD

6392

SDHD

succinate dehydrogenase complex subunit D

protein-coding

Homo sapiens

基因描述

Type Description
Definition succinate dehydrogenase complex subunit D

研究结论

Date Results Publications
2021-02-27 13:47:00 Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. 32971818
2021-02-06 13:48:00 Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 31492822
2020-12-12 13:23:00 Systemic Mitochondrial Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals. 31617381
2020-01-11 11:35:00 Carriers of succinate dehydrogenase (SDHx) mutations are at risk of developing phaeochromocytomas, catecholamine secreting extra-adrenal paragangliomas and non-secretory head and neck paragangliomas and require lifelong surveillance. 30957378
2019-12-14 12:13:00 The p81L mutation in the SDHD gene was found in the Mexican population in higher grade that in the United States population 30951038

名称对应

Type IDs
Synonymous CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS
Gene
UniProtKB-ID: DHSD_HUMAN, A0A0S2Z4H7_HUMAN, A0A0S2Z4J3_HUMAN
UniprotKB: O14521, A0A0S2Z4H7, A0A0S2Z4J3
UniParc: UPI0000129396, UPI00001FA376, UPI0001F781AD, UPI0001F781AC
EMBL: BT007238, KU178326, BC012603, BC070307, BC071756, KU178325, BC009574, AB026906, BC005263, BC015188, AP002007, AK075360, BC022350, CR456932, BC015992, BC071755, CH471065, AB006202
Ensembl: ENSG00000204370
KO: hsa:6392
Nucleutide sequences
EMBL-CDS: AAP35902.1, AAH15992.1, CAG33213.1, AAH71755.1, EAW67181.1, AAH09574.1, AAH15188.1, BAG52120.1, AAH12603.1, BAA22054.1, AAH70307.1, AAH71756.1, AAH05263.1, AAH22350.1, BAA81889.1, ALQ33784.1, ALQ33783.1
Ensembl_TRS: ENST00000375549, ENST00000614349, ENST00000528048, ENST00000526592, ENST00000525291
Protein sequencees
Ensembl_PRO: ENSP00000480666, ENSP00000364699, ENSP00000432005, ENSP00000436217, ENSP00000436669
RefSeq: NP_001263433.1, NP_002993.1, NP_001263432.1, NP_001263435.1
Others
UniRef100: UniRef100_A0A0S2Z4H7, UniRef100_O14521
UniRef90: UniRef90_A0A2I3TWI4, UniRef90_O14521
UniRef50: UniRef50_A0A5F4C5B0, UniRef50_O14521
UniGene: Hs.356270, Hs.744039
CCDS: CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1

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