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83552 MFRP

83552

MFRP

membrane frizzled-related protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition membrane frizzled-related protein

研究结论

Date Results Publications
2021-03-13 13:27:00 Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 32118495
2021-01-16 16:00:00 Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. 33203948
2020-06-06 10:30:00 The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. 31992737
2020-04-04 12:45:00 MFRP mutation is associated with posterior microphthalmos, retinitis pigmentosa, and foveoschisis. 31264930
2019-12-14 11:26:00 This is the first trio-based whole-genome sequencing (WGS), study for nanophthalmos, revealing the potential role of de novo mutations (DNMs) in MYRF and rare inherited genetic variants in PRSS56 and MFRP. 31266062

名称对应

Type IDs
Synonymous CTRP5, MCOP5, NNO2, RD6
Gene
UniProtKB-ID: MFRP_HUMAN
UniprotKB: Q9BY79
UniParc: UPI0000072615, UPI00017A7306
EMBL: AK295203, AP003396, AK055132, EF444994, AB055505, AJ862823, CH471065
Ensembl: ENSG00000235718
KO: hsa:83552
Nucleutide sequences
EMBL-CDS: ACA06013.1, BAG58200.1, BAB70859.1, CAH93521.1, BAB39771.1, EAW67483.1, ACA06015.1
Ensembl_TRS: ENST00000360167, ENST00000619721
Protein sequencees
Ensembl_PRO: ENSP00000353291, ENSP00000481824
RefSeq: NP_113621.1
Others
UniRef100: UniRef100_Q9BY79
UniRef90: UniRef90_Q9BY79
UniRef50: UniRef50_Q9BY79
UniGene: Hs.632102
CCDS: CCDS8421.1

全选

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