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:

  • Gene: [ALP/02q37] alkaline phosphatase gene cluster 2q37; (ALPIA ALPIF ALPPR ALPT)
  • Gene: [01p363/D1Z2] midisatellite DNA 66-68 bp (cosmid probe C230);