Entry - *102595 - ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2 - OMIM

 
 
* 102595

ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2


Alternative titles; symbols

ACYLPHOSPHATASE, MUSCLE; ACYP


HGNC Approved Gene Symbol: ACYP2

Cytogenetic location: 2p16.2     Genomic coordinates (GRCh38): 2:53,971,113-54,305,300 (from NCBI)


TEXT

▼ Description

Acylphosphatase (EC 3.6.1.7) is a hydrolase that specifically catalyzes the hydrolysis of the carboxyl-phosphate bond of acyl phosphates. It is a small (relative molecular mass about 11 kD) and stable enzyme that is distributed among a wide variety of species and tissues. The enzyme has been purified from skeletal muscle of various mammals and birds and the primary structures determined. The primary structure is well conserved among different species (summary by Modesti et al., 1993). Also see erythrocyte acylphosphatase (ACYP1; 600875).


▼ Cloning and Expression

Modesti et al. (1993) constructed a DNA sequence coding for human muscle acylphosphatase and studied its expression in E. coli and S. cerevisiae.


▼ REFERENCES

  1. Modesti, A., Raugei, G., Taddei, N., Marzocchini, R., Vecchi, M., Camici, G., Manao, G., Ramponi, G. Chemical synthesis and expression of a gene coding for human muscle acylphosphatase. Biochim. Biophys. Acta 1216: 369-374, 1993. [PubMed: 8268218, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 3/26/1994
Edit History:
carol : 05/23/2012
carol : 1/26/1999
mark : 10/16/1995
carol : 3/26/1994

* 102595

ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2


Alternative titles; symbols

ACYLPHOSPHATASE, MUSCLE; ACYP


HGNC Approved Gene Symbol: ACYP2

Cytogenetic location: 2p16.2     Genomic coordinates (GRCh38): 2:53,971,113-54,305,300 (from NCBI)


TEXT

Description

Acylphosphatase (EC 3.6.1.7) is a hydrolase that specifically catalyzes the hydrolysis of the carboxyl-phosphate bond of acyl phosphates. It is a small (relative molecular mass about 11 kD) and stable enzyme that is distributed among a wide variety of species and tissues. The enzyme has been purified from skeletal muscle of various mammals and birds and the primary structures determined. The primary structure is well conserved among different species (summary by Modesti et al., 1993). Also see erythrocyte acylphosphatase (ACYP1; 600875).


Cloning and Expression

Modesti et al. (1993) constructed a DNA sequence coding for human muscle acylphosphatase and studied its expression in E. coli and S. cerevisiae.


REFERENCES

  1. Modesti, A., Raugei, G., Taddei, N., Marzocchini, R., Vecchi, M., Camici, G., Manao, G., Ramponi, G. Chemical synthesis and expression of a gene coding for human muscle acylphosphatase. Biochim. Biophys. Acta 1216: 369-374, 1993. [PubMed: 8268218] [Full Text: https://doi.org/10.1016/0167-4781(93)90003-v]


Creation Date:
Victor A. McKusick : 3/26/1994

Edit History:
carol : 05/23/2012
carol : 1/26/1999
mark : 10/16/1995
carol : 3/26/1994



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 3, 2024