Gene: [03q27/AHSG] alpha-2-HS-glycoprotein (A/B-polypeptides); [HSGA A2HS ]

FUN

 The main function of alpha-2-HS-glycoprotein is connected with the bone tissue development. In addition, it exhibits some characteristics of opsonins and 'negative' acute-phase reactants, which blood levels are decreased in cancer and in inflammation processes."

MOP

 The mature protein consists of two peptides - A (282 amino acids; a glycopeptide with MM = 30.169 kD) and B (27 amino acids; MM = 3.386 kD) - which are bound by disulfide bond. Both peptides are synthesized as parts of a precursor encoded by a single gene. The prepropeptide contains also an N-terminal signal peptide (18 amino acids) and an inserted peptide (40 amino acids between A and B). The latter is eliminated via the restricted proteolysis during the maturation in Golgi apparatus."

POL

 [1] Gene-specific DNA probe A.99.AHSG-3'(a 1.2 kb fragment) has been cloned at EcoRI site (vector is not indicated).
[2] Gene-specific DNA probe PHS-39 (1.538 kb fragment) has been cloned at PstI site in the plasmid pKT218. -------------------------------- RFLP systems: ---------------------------------------------------------------------- RFLP name (Reference; Probe [number]): Alleles in kb/(Popul Freq) Const Bands (kb) ----------------------------------------------------------------------
[1] SacI A-RFLP (Arnaud-1987; Probe [1]): A1= 15.0/(0.42); A2= 11.4/(0.58); CBs= 1.6;
[2] PvuII BI-RFLP (Arnaud-1987; Probe [1]): BI1= duple 2.5/1.7/(0.95); BI2= 4.2/(0.05); CBs= 3.1;
[3] PvuII BII-RFLP (Lee-1987; Probe [2]): BII1= 2.8/(0.18); BII2= 3.3 or 2.0 /(0.82); CBs= 2.0 or 3.3;
[4] TaqI C-RFLP (Arnaud-1987; Probe [1]): C1= ?/(?); C2= ?/(?); CBs= 5.6/1.5/1.2/0.9"

REF

 PRO,POL "Arnaud &: CCG, 46, (HGM9), 571-572, 1987
FOG,POG "Boutin &: AJHG, 37, 1098-1105, 1985
FOG,POG "Cox &: AJHG, 38, 699-706, 1986
LOC,CYG "Cox, Francke: Hum Genet, 70, 109-115, 1985
LOC,MAP,LIN "Eiberg &: CCG, 37, (HGM7), 461, 1984
FUN,PEP,STR "Gejyo F &: JBC, 258, 4966-4971, 1983
CLO,SEQ,MOP,LOC,POL "Lee CC &: PNAS, 84, N13, 4403-4407, 1987
LOC,MOL,PRO "Magnuson VL &: CCG, 47, 72-74, 1988
FOG,POG "Umetsu &: Hum Genet, 73, 372-373, 1986
FUN,PEP,STR "Yoshioka Y &: JBC, 261, 1665-1676, 1986
LOC,MAP,LIN "Zelinski T &: Hum Hered, 37, 1-6, 1987

KEY

 hem, serp, bone, ont

CLA

 coding, basic

LOC

 03 q27

MIM

 MIM: 138680

SYN

 HSGA A2HS