MCFD2
multiple coagulation factor deficiency 2
Sinónimos:
F5F8D, F5F8D2, LMAN1IP, SDNSF
Especie:
Human MCFD2 (90411), Mouse Mcfd2 (193813), Rat Mcfd2 (246117), domestic cat MCFD2 (101081285), dog MCFD2 (474582), chicken MCFD2 (421413), Zebrafish mcfd2 (449676), sheep MCFD2 (101108469), naked mole-rat Mcfd2 (101704044), cow MCFD2 (616647) ...Más
ID UniProtKB:
ID del gen:
- Human(90411) Summary: This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (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, Jun 2010]
- Mouse(193813) multiple coagulation factor deficiency 2
- Rat(246117) multiple coagulation factor deficiency 2
- domestic cat(101081285) multiple coagulation factor deficiency 2
- dog(474582) multiple coagulation factor deficiency 2
- chicken(421413) multiple coagulation factor deficiency 2
- Zebrafish(449676) multiple coagulation factor deficiency 2
- sheep(101108469) multiple coagulation factor deficiency 2
- naked mole-rat(101704044) multiple coagulation factor deficiency 2
- cow(616647) multiple coagulation factor deficiency 2
- cow(507787) MCFD2 protein-like
- domestic guinea pig(100723194) multiple coagulation factor deficiency 2
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