Rat Mcfd2 cDNA Clone(NM_139253.1)

Name: Rat Mcfd2 cDNA Clone(NM_139253.1)
SKU: CDFR014411
Availability: InStock

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

Cat. No. : CDFR014411

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Product Information

Gene Information

Cat. No.	CDFR014411
Description	NativeORF clone of Rattus norvegicus multiple coagulation factor deficiency 2 (Mcfd2) as transfection-ready DNA NM_139253.1
Product Type	cDAN Clone
Gene Abbr	Mcfd2
Species	Rat
Vector	pCMV6Entry

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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