Gene: [ALP/02q37] alkaline phosphatase gene cluster 2q37; (ALPIA ALPIF ALPPR ALPT)


SUM

 [1] Currently five isoforms of alkaline phosphatase (ALP) encoded each by an individual gene are definitely known. These are the liver/bone/kidney (GEM:01p3/ALPL), the postnatal (GEM:02q371/ALPIA), and the fetal (GEM:02q37/ALPIF) intestinal isoforms; as well as the placental (GEM:02q371/ALPPR) and the testicular/T-cell or placental alkaline phosphatase-like (GEM:02q37/ALPT) isoforms. The genes for four isoforms (except for ALPL) are located in 2q37. Being highly homologous (by both amino acid and nucleic acid sequences, due to the common evolutionary origin from a single ancestral gene through the duplications), they are likely to form a tandem. However, a precise physical map of this region is not available yet.
[2] It was previously supposed (Kam-1985) that the gene for placental alkaline phosphatase-like ALP is located in chromosome 17. However, it was found lately that it is most probably located in the common ALP cluster in 2q37. This isoform is found in the testicular tissue, thymus, and probably placenta. The name 'placental alkaline phosphatase-like' is accounted for by the high homology with the placental ALP with respect to primary structure."

FUN

 [1] The enzyme has wide specificity. It catalyzes hydrolysis of orthophosphoric monoesters as well as transphosphorylation.
[2] Systematic name: orthophosphoric-monoester phosphohydrolase (alkaline optimum) The catalyzed reaction: an orthophosphoric monoester + H(2)O = an alcohol + orthophosphate."

HET

 The MIM Catalogue describes two other markers that concern ALP expression: a serum ABO/SE-associated isoform (MIM:171700; not reserved in the HGM and GEM catalogues because of data uncertainty) and the factor of elevated activity of different serum ALP forms (MIM:171720; unidentified yet)."

NOM

 The GEM catalogue adopted formally more rigorous denotation of the symbols for placental (isoenzyme Regan) and placental alkaline phosphatase-like (Nagao) isoforms: ALPPR (ALP, Placental, Regan) and ALPT (ALP, Testicular). It was necessary because the denotation adopted in the HGM catalogues (ALPP and ALPPL, respectively) would allow to interpret these symbols as 'ALP pseudogene' and 'ALPP-like sequence'."

PAT

 On the hypophosphatasias resulted from deficiency of the hepatic isoform, see GEM:01p3/ALPL:HET."

REL

 GEM:02p25/ACP1.

REF

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FUN,PEP "Garattini &: PNAS, 82, N18, 6080-6084, 1985
PHE,FOG,POP "Gogolin &: PNAS, 78, 5061-5065, 1981
FUN,PEP "Goldstein &: PNAS, 77, 2857-2860, 1980
LOC,PRO "Griffin CA &: AJHG, 41, 1025-1034, 1987
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PRO,SEQ,EXP "Henthorn PS &: PNAS, 84, N5, 1234-1238, 1987
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GEN,SEQ,POL "Knoll BJ &: JBC, 263, N24, 12020-12027, 1988
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PHE,FOG,POP "Palmarino &: Hum Biol, 51, 341-352, 1979
LOC,PRO "Raimondi E &: CCG, 47, 98-99, 1988
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PHE,FOG,POP "Robson, Harris: Nature, 207, 1257-1259, 1965
PRO,SEQ,EXP "Shen LP &: NAR, 16, N12, 5694, 1988
HET "Shreffler DC: AJHG, 17, 71-86, 1965
GEN,SEQ,POL "Tsavaler L &: PNAS, 84, N13, 4529-4532, 1987
HET "Wilson JW: New Engl J Med, 301, 983-984, 1979