Entry - *601932 - MUCIN 8, TRACHEOBRONCHIAL; MUC8 - OMIM

 
 
* 601932

MUCIN 8, TRACHEOBRONCHIAL; MUC8


HGNC Approved Gene Symbol: MUC8

Cytogenetic location: 12q24.33     Genomic coordinates (GRCh38): 12:132,471,396-132,474,587 (from NCBI)


TEXT

▼ Cloning and Expression

Shankar et al. (1994) cloned a partial cDNA encoding a major airway mucin glycoprotein, MUC8, with novel tandem repetitive sequence. The predicted 313-amino acid partial polypeptide contains 2 types of consensus repeats and is rich in serine, threonine, proline, glycine, and alanine (approximately 51%). Shankar et al. (1997) reported additional sequence derived from the 3-prime-rapid amplification of cDNA ends (RACE) technique. Using polyclonal antibodies raised in rabbits, they showed reaction with the deglycosylated major tracheobronchial mucin (MUC4; 158372). Immunohistochemical studies using the same antibodies localized the protein to submucosal glands in human tracheal epithelium.


▼ Mapping

Using DNA from a panel of human/mouse somatic cell hybrids, Shankar et al. (1997) mapped the MUC8 gene to chromosome 12. By fluorescence in situ hybridization, they localized the gene to 12q24.3.


▼ REFERENCES

  1. Shankar, V., Gilmore, M. S., Elkins, R. C., Sachdev, G. P. A novel human airway mucin cDNA encodes a protein with unique tandem-repeat organization. Biochem. J. 300: 295-298, 1994. [PubMed: 8002930, related citations] [Full Text]

  2. Shankar, V., Pichan, P., Eddy, R. L., Jr., Tonk, V., Nowak, N., Sait, S. N. J., Shows, T. B., Schultz, R. E., Gotway, G., Elkins, R. C., Gilmore, M. S., Sachdev, G. P. Chromosomal localization of a human mucin gene (MUC8) and cloning of the cDNA corresponding to the carboxy terminus. Am. J. Resp. Cell Molec. Biol. 16: 232-234, 1997. [PubMed: 9070607, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 8/13/1997
Edit History:
carol : 04/15/2014
mark : 8/15/1997
mark : 8/15/1997

* 601932

MUCIN 8, TRACHEOBRONCHIAL; MUC8


HGNC Approved Gene Symbol: MUC8

Cytogenetic location: 12q24.33     Genomic coordinates (GRCh38): 12:132,471,396-132,474,587 (from NCBI)


TEXT

Cloning and Expression

Shankar et al. (1994) cloned a partial cDNA encoding a major airway mucin glycoprotein, MUC8, with novel tandem repetitive sequence. The predicted 313-amino acid partial polypeptide contains 2 types of consensus repeats and is rich in serine, threonine, proline, glycine, and alanine (approximately 51%). Shankar et al. (1997) reported additional sequence derived from the 3-prime-rapid amplification of cDNA ends (RACE) technique. Using polyclonal antibodies raised in rabbits, they showed reaction with the deglycosylated major tracheobronchial mucin (MUC4; 158372). Immunohistochemical studies using the same antibodies localized the protein to submucosal glands in human tracheal epithelium.


Mapping

Using DNA from a panel of human/mouse somatic cell hybrids, Shankar et al. (1997) mapped the MUC8 gene to chromosome 12. By fluorescence in situ hybridization, they localized the gene to 12q24.3.


REFERENCES

  1. Shankar, V., Gilmore, M. S., Elkins, R. C., Sachdev, G. P. A novel human airway mucin cDNA encodes a protein with unique tandem-repeat organization. Biochem. J. 300: 295-298, 1994. [PubMed: 8002930] [Full Text: https://doi.org/10.1042/bj3000295]

  2. Shankar, V., Pichan, P., Eddy, R. L., Jr., Tonk, V., Nowak, N., Sait, S. N. J., Shows, T. B., Schultz, R. E., Gotway, G., Elkins, R. C., Gilmore, M. S., Sachdev, G. P. Chromosomal localization of a human mucin gene (MUC8) and cloning of the cDNA corresponding to the carboxy terminus. Am. J. Resp. Cell Molec. Biol. 16: 232-234, 1997. [PubMed: 9070607] [Full Text: https://doi.org/10.1165/ajrcmb.16.3.9070607]


Creation Date:
Victor A. McKusick : 8/13/1997

Edit History:
carol : 04/15/2014
mark : 8/15/1997
mark : 8/15/1997



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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: May 5, 2024