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