Mouse Mcfd2 ORF Clone(NM_139295.3)

Name: Mouse Mcfd2 ORF Clone(NM_139295.3)
SKU: CDCR266515
Availability: InStock

For research use only. Not intended for any clinical use.

Cat. No. : CDCR266515

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Product Information

Gene Information

Cat. No.	CDCR266515
Product Type	ORF Clone
Gene Abbr	Mcfd2
Species	Mouse
Tag	C-terminal TurboGFP
ORF Size	438 bp
Vector	pCMV6-AC-GFP

Target Gene

MCFD2

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]

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