Gene: [14q321/PI1] protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin; alpha-1-antitrypsin deficiency, autosomal recessive; emphysema (liability?; chronic obstructive lung disease); hepatocellular carcinoma/cirrhosis (liability?); [PI AAT ]
HIS | In the course of studies on ataxia telangiectasia (GEM:14q/ATLS) and fine mapping of the distal break point in inversions and translocations of Chr 14q, associated with that disease, PI gene was demonstrated (Stern-1988) to be most likely located in segment 14q31. However, GDB, according to data on in situ hybridization by the nonisotope method (Bhatt-1988), indicates the localization as q32.1." |
FAG | Serine proteinase inhibitors (serpins) are a large superfamily of proteins which bind to and inactivate serine proteinases. These interactions are involved in many cellular processes including coagulation, fibrinolysis, complement fixation, matrix remodeling, and apoptosis. The other members of the superfamily are: GEM:06p2/ELANH2(=PI2); GEM:20q1/PI3; GEM:14q3/PI4; GEM:18q213/PI5; GEM:06p2/PI6; GEM:02q3/PI7; GEM:00.0/PI8; GEM:06p25/PI9; GEM:00.0/PI10; GEM:18q213/SCCA2(=PI11); GEM:03q26/PI12; GEM:00.0/PI13; GEM:00.0/PI14; GEM:14q321/PIL; GEM:11q1/C1NH; GEM:18q221/PLGAI2; GEM:17p1/PLI." |
REF | LOC,CYG,MOL,MET "Bhatt
B &: NAR, 16, N9, 3951-3961, 1988 MOP,MUT,PAT "Carrell RW &: Nature, 298, (22 July), 329-334, 1982 POL,MOL,PAG "Cox, Billingsley: AJHG, 44, N6, 844-854, 1989 POL,MOL,PAG "Cox &: AJHG, 41, 891-906, 1987 POL,MOL,PAG "Cox &: Nature, 316, 79-81, 1985 LOC "Darlington GJ &: PNAS, 79, 870-873, 1982 CLO,SEQ,POL "Faber JP &: AJHG, 55, 1113-1121, 1994 MUT,MOL "Fraiser GC &: AJHG, 44, N6, 894-902, 1989 ENG,TER "Garver &: Science, 237, 762-764, 1987 CLO,SEQ,STR,EXP "Hafeez W &: J Clin Invest, 89, 1214-1222, 1992 PRO,SEQ "Kurachi &: PNAS, 78, N11, 6826-6830, 1981 PRO,GEN,FAG "Lai EC &: AJHG, 35, 385-392, 1983 PRO,EVO,GEN "Leicht &: Nature, 297, (24 June), 655-659, 1982 MAP "Pearson SJ &: Somat Cell Genet, 9, N5, 567-592, 1983 PRO,EXP "Rogers J &: BBRC, 116, N2, 375-382, 1983 LOC "Schroeder WT &: AJHG, 37, 868-872, 1985 LOC,HIS "Stern MH &: Hum Genet, 81, 18-22, 1988 LOC "Yamamoto Y &: Hum Genet, 74, 190-192, 1986 |
SWI | SWISSPROT: P01009 |
KEY | serp, mfd, pulm, git |
CLA | coding, basic |
LOC | 14 q32.1 |
MIM | MIM: 107400 |
SYN | PI AAT |
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