MCFD2

MCFD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2
External IDs MGI: 2183439 HomoloGene: 44552 GeneCards: MCFD2
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

90411

193813

Ensembl

ENSG00000180398

ENSMUSG00000024150

UniProt

Q8NI22

Q8K5B2

RefSeq (mRNA)

NM_139295
NM_176808

RefSeq (protein)

NP_647456.1
NP_789778.1

Location (UCSC) Chr 2: 46.9 – 46.94 Mb Chr 17: 87.25 – 87.27 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.[3][4][5] Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D (May 2003). "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet. 34 (2): 220–5. doi:10.1038/ng1153. PMID 12717434.
  4. Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW (Mar 1989). "Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene". Gene. 71 (1): 123–34. doi:10.1016/0378-1119(88)90084-4. PMID 2463956.
  5. "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

Further reading


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