Gene: [01p3/ALPL] alkaline phosphatase, liver/bone/kidney; hypophosphatasia, adult type (MIM:146300); phosphoethanolaminuria (hypophosphatasia, infantile; HOPS; MIM:241500);
|
COM |
[1] Five isoforms of the alkaline phosphatase are known, each of them
being coded by an independent gene. Aside from the given phosphatase,
the following isoforms have been described: placental (GEM:02q371/ALPPR),
testicular/thymocytic, or placental-like (GEM:02q37/ALPT), and two
intestinal isoforms, postnatal (GEM:02q371/ALPIA) and fetal (GEM:02q37/ALPIF).
The genes of four isoforms are located on Chr 2; they are likely to form
a tandem in subsegment q37; see also FAM:ALP/02q37.
[2] For more information on the genetic map segment conaining ALPL, see GEM:01p36/FGR." |
|
FUN |
[1] Systematic name:
orthophosphoric-monoester phosphohydrolase (alkaline optimum).
[2] Reaction catalyzed: an orthophosphoric monoester + H(2)O = an alcohol + orthophosphate. [3] The enzyme has wide specificity. It catalyses hydrolysis of orthophosphoric monoesters and transphosphorylations." |
|
HET |
The MIM Catalogue describes three types of hypophosphatasia:
(1) infantile (or inborn, i.e., one with the manifestation in infants; MIM:241500), the most severe clinical form, with recessive inheritance; (2) juvenile, or childhood (MIM:241510), with older age of onset, more mild clinically, also with recessive inheritance; and (3) adult (MIM:146300), almost asymptomatic and has no marked osteal lesions; with dominant inheritance. All three forms are likely to be determined by mutations of the structural gene of the hepatic isoform, although the precise molecular mechanisms are still unknown." |
|
MAP |
Loci: GEM:01p362/NPPA; GEM:01p36/FGR; GEM:01p34/FUCA1; GEM:01p3/RHCE;
GEM:01p32/MYCL1.
[1] See GEM:01p36/FGR." |
|
REL |
GEM:02p25/ACP1. |
|
REF |
PAT,PHE,FOG "Albeggiani A, Cataldo F: Helv Paediat Acta, 37, N1, 49-58,
1982 LIN,MAP "Ardinger RH &: AJHG, 41, A154, 1987 LIN,MAP "Chodirker BN &: Genomics, 1, N3, 280-282, 1987 PAT,PHE,FOG "Eade AW &: Ann Rheum Dis, 40, N2, 164-170, 1981 PAT,PHE,FOG "Eastman JR, Bixler D: J Craniofac Genet Dev Biol, 3, N3, 213-234, 1983 IDN,FUN,PEP "Engstrom L: BBA, 52, 36-?, 1961 PAT,PHE,FOG "Fallon MD &: Medicine, 63, N1, 12-24, 1984 FUN,PEP "Harkness DR: Arch Biochem Biophys, 126, N2, 513-523, 1968 PEP,SEQ,EVO "Hua JC &: PNAS, 83, N8, 2368-2372, 1986 PND "Kousseff BG, Mulivor RA: Obstet Gynecol, 57, N6, S9-12, 1981 IDN,FUN,PEP "Malamy MH, Horecker BL: Biochemistry, 3, 0, 1893 IDN,FUN,PEP "Morton RK: Biochem J, 55, 795-?, 1953 PND "Mulivor RA &: AJHG, 30, 271-282, 1978 LOC "Smith M &: Genomics, 2, N2, 139-143, 1988 LOC "Swallow DM &: Ann Hum Genet, 50, (Pt 3), 229-235, 1986 LOC "Swallow DM &: CCG, 40 (HGM8), N1-4, 756, 1985 PND "Warren RC &: Lancet, 2, 856-858, 1985 PAT,PHE,FOG "Weinstein RS &: Arch Int Med, 141, N6, 727-731, 1981 GEN,MAF,MOP "Weiss MJ &: JBC, 263, N24, 12002-12010, 1988 LOC "Weiss MJ &: CCG, 46, (HGM9), 714, 1987a POL,MOL "Weiss MJ &: NAR, 15, N2, 860, 1987b PRO,SEQ,MOP "Weiss MJ &: PNAS, 83, N19, 7182-7186, 1986 TER "Whyte MP &: J Pediatr, 108, N1, 82-88, 1986 TER "Whyte MP &: J Pediatr, 105, N6, 926-933, 1984 PAT,PHE,FOG "Whyte MP &: Am J Med, 72, N4, 631-641, 1982 PAT,PHE,FOG "Whyte MP &: Medicine, 58, N5, 329-347, 1979 |
|
KEY |
mem, mtbd, bone |
|
CLA |
coding, basic |
|
LOC |
01 p36.1-34 |
|
MIM |
MIM: 171760 |
|
EZN |
ENZYME: 3.1.3.1 |
Смотрите также:
