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MCFD2


Official Full Name
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Organism
Homo sapiens
Gene ID
90411
Background
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Synonyms
F5F8D; SDNSF; F5F8D2; LMAN1IP

Cat.No. Product Name Price
SHW000484 shRNA set against Chicken MCFD2 (NM_001006400) Inquiry
SHH181001 shRNA set against Rat Mcfd2(NM_139253.1) Inquiry
SHH339223 shRNA set against Human MCFD2 (NM_139279.5) Inquiry
SHH339227 shRNA set against Mouse MCFD2 (NM_176808.5) Inquiry
SHH339231 shRNA set against Rat MCFD2 (NM_139253.1) Inquiry
SHW007359 shRNA set against Danio rerio MCFD2 (NM_001005939) Inquiry
Cat.No. Product Name Price
CDCR266515 Mouse Mcfd2 ORF Clone(NM_139295.3) Inquiry
CDCS408970 Human MCFD2 ORF Clone (BC040357) Inquiry
CDFR014411 Rat Mcfd2 cDNA Clone(NM_139253.1) Inquiry
MiUTR1R-03730 MCFD2 miRNA 3'UTR clone Inquiry
MiUTR4H-TG05408 MCFD2 miRNA 3'UTR clone Inquiry
CDCB159840 Human MCFD2 ORF clone (BC040357) Inquiry
CDCB161959 Chicken MCFD2 ORF Clone (NM_001006400) Inquiry
CDCB168834 Danio rerio MCFD2 ORF Clone (NM_001005939) Inquiry
CDCB186011 Rabbit MCFD2 ORF clone (XM_002709885.2) Inquiry
CDCL131293 Human MCFD2 ORF clone (NM_001171511.2) Inquiry
CDCR356247 Human MCFD2 ORF Clone(NM_001171506.2) Inquiry
CDCR356249 Human MCFD2 ORF Clone(NM_001171507.2) Inquiry
CDCR356251 Human MCFD2 ORF Clone(NM_001171508.2) Inquiry
CDCR356254 Human MCFD2 ORF Clone(NM_001171509.2) Inquiry
CDCR356256 Human MCFD2 ORF Clone(NM_001171510.2) Inquiry
CDCR381458 Rat Mcfd2 ORF Clone(NM_139253.1) Inquiry
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