Gene: [09q3/ITIL] inter-alpha-trypsin inhibitor, light chain (protein HC); alpha-1-microglobulin / bikunin precursor; Mediterranean fever? (HC-protein deficiency?); periodic disease? (polyserositis, recurrent; paroxysmal); [AMBP HCP ]

MOP

The transcription product of this gene codes for two different proteins, alpha-1 microglobulin (an inflammation marker) and the light (L-) chain of the inter-alpha trypsin inhibitor (protein HC, heterogeneous in charge); isoforms of the heavy (H-) chain of this protein are encoded by three different genes (GEM:03p21/ITIH1; GEM:10p15/ITIH2; and GEM:03p21/ITIH3)."

ASS

An ill-considered suggestion was made (Mendez-1986), that patients with familial polyserositis (periodic disease or Mediterranean fever; GEM:16p133/MEFV) may exhibit the protein HC deficiency, that accounts for frequent and anomalous inflammation reactions, which are characteristic for this desease. On the other hand, the familial polyserositis was supposed to be related to the homozygosity for a mutant isoform of one of lipocortins (GEM:09q/ANX1). It is notable that both genes presumably involved in etiopathogenesis of polyserositis are located in chr 9q (possibly close to each other)."

REF

CLO,SEQ,MOP,EXP "Bourguignon J &: BBRC, 131, 1146-1153, 1985
FUN,PEP,EXP,EVO "Bourguignon J &: FEBS Lett, 162, 379-383, 1983
LOC,MOL,FAG "Diarra-Mehrpour M &: Eur J Biochem, 179, 147-154, 1989
CLO,SEQ,MOP,EXP "Kaumeyer JF &: NAR, 14, 7839-7850, 1986
FUN,EXP,PAT "Mendez &: PNAS, 83, N5, 1472-1475, 1986
FUN,PEP,EXP,EVO "Pervaiz, Brew: Science, 228, 335-337, 1985
LOC "Salier JP &: Genomics, 14, N1, 83-88, 1992
FUN,PEP,EXP,EVO "Salier JP &: PNAS, 84, N23, 8272-8276, 1987
LOC,MOL,PRO "Traboni C &: CCG, 50, N1, 46-48, 1989
LOC,MOL,PRO "Traboni C &: CCG, 46, (HGM9), 705, 1987
CLO,SEQ,MOP,EXP "Traboni C, Cortese: NAR, 14, 6340, 1986
MOP,MEB,GEN,EVO "Vetr &: FEBS Lett, 245, N1-2, 137-140, 1989

SWI

SWISSPROT: P02760

KEY

pep, imm, derm, mfd

CLA

coding, basic

LOC

09 q32-33

MIM

MIM: 176870

SYN

AMBP HCP