MCFD2 Rabbit pAb (APR18000N)

• 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.

• 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.

• 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) .

• 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