Entry - *615579 - ATAXIN 7-LIKE 3B; ATXN7L3B - OMIM

 
 
* 615579

ATAXIN 7-LIKE 3B; ATXN7L3B


HGNC Approved Gene Symbol: ATXN7L3B

Cytogenetic location: 12q21.1     Genomic coordinates (GRCh38): 12:74,537,835-74,545,430 (from NCBI)


TEXT

▼ Cloning and Expression

Using database analysis to identify genes in a 670-kb region of chromosome 12 that was deleted in a family with complex neurodevelopmental and ataxic phenotypes, Rajakulendran et al. (2013) identified ATXN7L3B.


▼ Gene Structure

Rajakulendran et al. (2013) determined that ATXN7L3B is a single-exon gene.


▼ Mapping

Rajakulendran et al. (2013) stated that the ATXN7L3B gene maps to chromosome 12q21.


▼ REFERENCES

  1. Rajakulendran, S., Roberts, J., Koltzenburg, M., Hanna, M. G., Stewart, H. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J. Neurol. Neurosurg. Psychiat. 84: 1255-1257, 2013. [PubMed: 23475819, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 12/19/2013
Edit History:
carol : 12/19/2013

* 615579

ATAXIN 7-LIKE 3B; ATXN7L3B


HGNC Approved Gene Symbol: ATXN7L3B

Cytogenetic location: 12q21.1     Genomic coordinates (GRCh38): 12:74,537,835-74,545,430 (from NCBI)


TEXT

Cloning and Expression

Using database analysis to identify genes in a 670-kb region of chromosome 12 that was deleted in a family with complex neurodevelopmental and ataxic phenotypes, Rajakulendran et al. (2013) identified ATXN7L3B.


Gene Structure

Rajakulendran et al. (2013) determined that ATXN7L3B is a single-exon gene.


Mapping

Rajakulendran et al. (2013) stated that the ATXN7L3B gene maps to chromosome 12q21.


REFERENCES

  1. Rajakulendran, S., Roberts, J., Koltzenburg, M., Hanna, M. G., Stewart, H. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J. Neurol. Neurosurg. Psychiat. 84: 1255-1257, 2013. [PubMed: 23475819] [Full Text: https://doi.org/10.1136/jnnp-2012-304555]


Creation Date:
Patricia A. Hartz : 12/19/2013

Edit History:
carol : 12/19/2013



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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: June 11, 2024