MCFD2 Rabbit pAb (APR18000N)

CAT: 0882-APR18000N-01Size: 50 µLDry Ice: NoHazardous: No

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CAT#:0882-APR18000N-01Size:50 µL

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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.

Overview

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality MCFD2 Rabbit pAb (APR18000N) .

Synonyms

MCFD2; F5F8D; F5F8D2; LMAN1IP; SDNSF

Gene ID

90411

UniProt

Q8NI22

Cellular Locus

Endoplasmic reticulum, Endoplasmic reticulum-Golgi intermediate compartment, Golgi apparatus

Dilution

WB 1:500 - 1:2000 IHC 1:100 - 1:200

Form

Liquid

Buffer

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Molecular Weight

Calculated MW: 10kDa/14kDa/16kDa Observed MW: 16kDa

Storage Conditions

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

Gene ID URL

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=90411

Uniprot URL

https://www.uniprot.org/uniprot/Q8NI22

AA Sequence

EEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ

UniProtKB · Q8NI22

Multiple coagulation factor deficiency protein 2

MCFD2_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: Q8NI22
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: MCFD2
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: —
Processing: Precursor
Secondary accessions: A8K7W2, D6W5A9, E9PD95, Q53SS3, Q68D61, Q8N3M5

Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Coding sequence diversity

Alternative splicing

Ligand

CalciumMetal-binding

Disease

Disease variant

Cellular component

Endoplasmic reticulumGolgi apparatus

Biological process

ER-Golgi transportProtein transportTransport

PTM

Phosphoprotein

Domain

RepeatSignal

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