Entry - *602019 - SQUALENE EPOXIDASE; SQLE - OMIM

 
 
* 602019

SQUALENE EPOXIDASE; SQLE


HGNC Approved Gene Symbol: SQLE

Cytogenetic location: 8q24.13     Genomic coordinates (GRCh38): 8:124,998,505-125,022,283 (from NCBI)


TEXT

▼ Description

Squalene epoxidase (EC 1.14.99.7) catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway (summary by Nagai et al., 1997).


▼ Mapping

By PCR analysis of a human/rodent somatic cell hybrid mapping panel, Nagai et al. (1997) demonstrated that the human SQLE gene maps to chromosome 8. The localization was refined by PCR analysis of a radiation hybrid panel. The results showed that human SQLE is most tightly linked to D8S508, which is reported to be located at 8q24.13-qter. The authors used fluorescence in situ hybridization to map SQLE to 8q24.1.


▼ REFERENCES

  1. Nagai, M., Sakakibara, J., Wakui, K., Fukushima, Y., Igarashi, S., Tsuji, S., Arakawa, M., Ono, T. Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. Genomics 44: 141-143, 1997. [PubMed: 9286711, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 9/26/1997
Edit History:
alopez : 03/08/2012
alopez : 3/15/2010
mark : 9/26/1997

* 602019

SQUALENE EPOXIDASE; SQLE


HGNC Approved Gene Symbol: SQLE

Cytogenetic location: 8q24.13     Genomic coordinates (GRCh38): 8:124,998,505-125,022,283 (from NCBI)


TEXT

Description

Squalene epoxidase (EC 1.14.99.7) catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway (summary by Nagai et al., 1997).


Mapping

By PCR analysis of a human/rodent somatic cell hybrid mapping panel, Nagai et al. (1997) demonstrated that the human SQLE gene maps to chromosome 8. The localization was refined by PCR analysis of a radiation hybrid panel. The results showed that human SQLE is most tightly linked to D8S508, which is reported to be located at 8q24.13-qter. The authors used fluorescence in situ hybridization to map SQLE to 8q24.1.


REFERENCES

  1. Nagai, M., Sakakibara, J., Wakui, K., Fukushima, Y., Igarashi, S., Tsuji, S., Arakawa, M., Ono, T. Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. Genomics 44: 141-143, 1997. [PubMed: 9286711] [Full Text: https://doi.org/10.1006/geno.1997.4825]


Creation Date:
Victor A. McKusick : 9/26/1997

Edit History:
alopez : 03/08/2012
alopez : 3/15/2010
mark : 9/26/1997



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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: April 30, 2024