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10846 PDE10A

10846

PDE10A

phosphodiesterase 10A

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphodiesterase 10A

研究结论

Date Results Publications
2020-05-09 10:17:00 Mutations in the regulatory GAF domains of PDE10A that cause hyperkinetic syndromes in humans lead to misprocessing of the PDE10A enzyme that ultimately leads to targeted degradation by the ubiquitin proteasome system or clearance by autophagy. Both mechanisms result in a paucity of PDE10A activity that lead to a loss of movement coordination. 31871190
2020-02-08 10:21:00 PDE10A IgG defines a novel rare neurologic autoimmune syndrome and expands the spectrum of diagnosable paraneoplastic CNS disorders. 31315972
2019-09-14 10:37:00 indicate an association between PDE10A and ADCY5 mutations and pre/postsynaptic molecular changes, substantia nigra damage, and white and gray matter changes within the striatocortical pathways 30345538
2019-05-04 10:10:00 This report that PDE10A mutation is associated with familial Benign hereditary chorea. 29165877
2019-02-16 10:51:00 natural selection on genetic variants in the PDE10A gene have increased spleen size in the Bajau population of Indonesia, providing them with a larger reservoir of oxygenated red blood cells 29677510

名称对应

Type IDs
Synonymous ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19
Gene
UniProtKB-ID: PDE10_HUMAN, A0A1B1UZQ1_HUMAN, A0A1B1UZR0_HUMAN
UniprotKB: Q9Y233, A0A1B1UZQ1, A0A1B1UZR0
UniParc: UPI0000039E34, UPI0000E0A69C, UPI000006F80E
EMBL: AL117345, KU519418, AB026816, KF458359, AL160160, AL590302, KU519416, KU519415, KU519407, BC104858, AF127480, AB041798, AL591962, CR536567, AL136130, BC104860, KF458352, KU519409, KU519412, KU519413, KU519414, AF127479, CH471051, AB020593, AL121789
Ensembl: ENSG00000112541
KO: hsa:10846
Nucleutide sequences
EMBL-CDS: AAI04861.1, AAD32596.1, AAD32595.1, CAG38804.1, BAA84467.1, AAI04859.1, BAB16383.1, BAA78034.1, ANW09721.1, ANW09718.1, ANW09713.1, ANW09722.1, ANW09719.1, ANW09715.1, ANW09724.1, ANW09720.1, EAW47546.1
Gene_ORFName: hCG_34059
Ensembl_TRS: ENST00000366882, ENST00000648884
Protein sequencees
Ensembl_PRO: ENSP00000355847, ENSP00000497392
RefSeq: XP_024302080.1, XP_011533689.2, XP_024302079.1, XP_016865686.1, XP_016865684.1, XP_011533695.1, XP_016865683.1, NP_006652.1, XP_006715384.1, NP_001372008.1, XP_011533690.1, XP_016865685.1, NP_001124162.1
Others
UniRef100: UniRef100_Q9Y233, UniRef100_A0A3F2YP58
UniRef90: UniRef90_A0A5F7ZC47, UniRef90_Q9Y233
UniRef50: UniRef50_Q9Y233, UniRef50_A0A5F7ZC47
UniGene: Hs.348762
CCDS: CCDS5289.1, CCDS47513.1

全选

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