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193813 Mcfd2

193813

Mcfd2

multiple coagulation factor deficiency 2

protein-coding

Mus musculus

基因描述

Type Description
Definition multiple coagulation factor deficiency 2

研究结论

Date Results Publications
2019-02-23 13:00:00 MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans. 29735583
2010-01-21 00:00:00 These results indicate that increased levels of cargo receptor proteins might have a function either in the quality control of protein folding in the endoplasmic reticulum or in the homeostasis of the intermediate compartment and Golgi complex. 16899390

名称对应

Type IDs
Synonymous 1810021C21Rik, F5f8d, Lman1ip, Sdnsf
Gene
UniProtKB-ID: MCFD2_MOUSE, D0EW11_MOUSE
UniprotKB: Q8K5B2, D0EW11
UniParc: UPI0000028E54
EMBL: AF475283, AK077139, AK141599, AK075781, AK077631, GQ896356, GQ896355, AK151803, AK033139
Ensembl: ENSMUSG00000024150
KO: mmu:193813
Nucleutide sequences
EMBL-CDS: BAC36638.1, BAC28169.1, BAC36914.1, BAE30702.1, BAE24757.1, AAM28464.1, BAC35955.1, ACX48448.1, ACX48449.1
Ensembl_TRS: ENSMUST00000024963, ENSMUST00000129616, ENSMUST00000144236
Protein sequencees
Ensembl_PRO: ENSMUSP00000123352, ENSMUSP00000121820, ENSMUSP00000024963
RefSeq: XP_030105467.1, XP_030105469.1, XP_006523964.1, XP_030105468.1, XP_006523963.1, NP_647456.1, XP_011244630.1, NP_789778.1
Others
UniRef100: UniRef100_Q8K5B2
UniRef90: UniRef90_Q8K5B3
UniRef50: UniRef50_Q8K5B3
UniGene: Mm.30251
CCDS: CCDS29015.1

全选

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