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11304 Abca4

11304

Abca4

ATP-binding cassette, sub-family A (ABC1), member 4

protein-coding

Mus musculus

基因描述

Type Description
Definition ATP-binding cassette, sub-family A (ABC1), member 4

研究结论

Date Results Publications
2021-03-06 13:28:00 Cell-Type-Specific Complement Profiling in the ABCA4(-/-) Mouse Model of Stargardt Disease. 33187113
2021-02-13 13:23:00 Disentangling the Roles of RIM and Munc13 in Localization and Neurotransmission. 33139401
2019-01-12 11:06:00 ABCA4 functions to recycle retinaldehyde released during proteolysis of rhodopsin in retinal pigment epithelium endolysosomes following daily phagocytosis of distal photoreceptor OS. ABCA4 deficiency in the retinal pigment epithelium may play a role in the pathogenesis of Recessive Stargardt disease 1. 30397118
2019-01-05 10:44:00 we show that the p.Asn965Ser ABCA4 variant expresses at half the level of WT ABCA4, partially mislocalizes to the endoplasmic reticulum (ER) of photoreceptors, is devoid of N-Ret-PE activated ATPase activity, and causes an increase in autofluorescence and the bisretinoid A2E associated with lipofuscin deposits in retinal pigment epithelial cells as found in Stargardt patients and Abca4 knockout mice. 29145636
2017-06-24 11:35:00 a comprehensive analysis using RNA-seq identified important roles of the acute stress response in the degenerating retina of Abca4-/-Rdh8-/- mice that are predisposed to retinal degeneration under light stress. 27315541

名称对应

Type IDs
Synonymous AW050280, Abc10, Abcr, D430003I15Rik, RmP
Gene
UniProtKB-ID: ABCA4_MOUSE
UniprotKB: O35600
UniParc: UPI00000299B8
EMBL: AF000149, BC057853
Ensembl: ENSMUSG00000028125
KO: mmu:11304
Nucleutide sequences
EMBL-CDS: AAH57853.1, AAC23916.1
Ensembl_TRS: ENSMUST00000013995
Protein sequencees
Ensembl_PRO: ENSMUSP00000013995
RefSeq: NP_031404.1, XP_006500975.1, XP_006500974.1, XP_017174928.1, XP_017174929.1, XP_036018752.1
Others
UniRef100: UniRef100_O35600
UniRef90: UniRef90_O35600
UniRef50: UniRef50_P78363
UniGene: Mm.3918
CCDS: CCDS38617.1

全选

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