Gene: [18q2/LMAN1] lectin, mannose-binding, 1; intracellular mannose specific lectin; coagulation factor V - factor VIII combined deficiency (MIM:227300); [ERGIC-53 ]
COM | [1]
Arar-1996 mapped the MR60/ERGIC-53 gene (a component of the ER-Golgi
intermediate compartment) to Chr 18q21.3-22 by isotopic in situ
hybridization. [2] Nichols-1997 assigned the F5F8D gene to Chr 18. Neerman-Arbez-1997 mapped the F5F8D gene to Chr 18q21 between markers D18S849 and D18S64 in an interval of approximately 3 cM. [3] Nichols-1998 mapped the ERGIC-53 gene to a YAC and BAC contig containing the critical region for F5F8 combined deficiency gene and identified two different mutations, accounting for all affected individuals in nine families studied." |
REL | GEM:10q112/MBL2. |
REF | COD,LOC,EVO "Arar C &: Mammal Genome, 7, N10, 791-792,
1996 COD,LOC,EVO "Arar C &: JBC, 270, 3551-3553, 1995 LIN,LOC "Neerman-Arbez M &: AJHG, 61, 143-150, 1997 MUT "Nichols WC &: Cell, 93, N1, 61-70, 1998 LIN,LOC "Nichols WC &: J Clin Invest, 99, N4, 596-601, 1997 SEQ,PEP "Schindler R &: Eur J Cell Biol, 61, 1-9, 1993 |
SWI | SWISSPROT: P49257 |
KEY | mem, carb, hem, clot |
CLA | coding, basic |
LOC | 18 q21.3-22 |
MIM | MIM: 601567 |
SYN | ERGIC-53 |
