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111 ADCY5

111

ADCY5

adenylate cyclase 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition adenylate cyclase 5

研究结论

Date Results Publications
2021-02-06 13:52:00 Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. 31628766
2020-10-24 14:06:00 Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements. 31383240
2020-06-20 12:39:00 Three SNPs (rs6797915, rs9856662 and rs9875803) displayed evidence for association with plasma glucose 1 hour after a 50-gram glucose challenge test, one (rs6777397) displayed evidence for association with HOMA1-beta, and one (rs6762009) displayed evidence for association with HOMA1-IR. 32163478
2020-06-06 13:22:00 we describe a native Arabian Bedouin family with an autosomal recessive ADCY5-related disorder 30975617
2019-09-21 11:44:00 Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5 mutation-related dyskinesia. 29680308

名称对应

Type IDs
Synonymous AC5, FDFM
Gene
UniProtKB-ID: ADCY5_HUMAN, A0A384P5Q5_HUMAN, B3KWA8_HUMAN, B7Z2C7_HUMAN
UniprotKB: O95622, A0A384P5Q5, B3KWA8, B7Z2C7
UniParc: UPI00004A234C, UPI0001637D66, UPI000191524B, UPI000015E262
EMBL: GQ891503, AK294565, AK303070, AC112503, AC025571, AK124691, U65473, BK000371, AF497517
Ensembl: ENSG00000173175
KO: hsa:111
Nucleutide sequences
EMBL-CDS: BAH13892.1, AAM94374.1, AAD00121.1, DAA00057.1, ADO22365.1, BAG54070.1, BAH11813.1
Ensembl_TRS: ENST00000309879, ENST00000462833, ENST00000491190
Protein sequencees
Ensembl_PRO: ENSP00000419361, ENSP00000308685, ENSP00000418537
RefSeq: XP_006713546.1, XP_005247135.1, XP_011510663.1, NP_001186571.1, NP_001365188.1, XP_016861128.1, XP_016861127.1, XP_006713547.1, XP_011510661.1, XP_011510662.1, NP_899200.1
Others
UniRef100: UniRef100_O95622, UniRef100_B3KWA8
UniRef90: UniRef90_B3KWA8, UniRef90_O95622
UniRef50: UniRef50_Q03343, UniRef50_G3WHT6
UniGene: Hs.593292
CCDS: CCDS3022.1, CCDS56274.1

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