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The official name of this gene is “KIAA1279.”
KIAA1279 is the gene's official symbol. The KIAA1279 gene is also known by other names, listed below.
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.
NOTE: UniProt (http://www.uniprot.org/uniprot/Q96EK5) suggests using caution when interpreting this information.
Goldberg-Shprintzen megacolon syndrome (GOSHS): A disorder characterized by Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, and developmental delay. The disease is caused by mutations affecting the gene represented in this entry.
|||609460 (http://omim.org/entry/609460)||GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME|
|609367 (http://omim.org/entry/609367)||KIAA1279 GENE|
Cytogenetic Location: 10q22.1
Molecular Location on chromosome 10: base pairs 68,988,720 to 69,016,982
The KIAA1279 gene is located on the long (q) arm of chromosome 10 at position 22.1.
More precisely, the KIAA1279 gene is located from base pair 68,988,720 to base pair 69,016,982 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about KIAA1279 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
central nervous system ; cleft palate ; cytoskeleton ; developmental delay ; gene ; hypertelorism ; localize ; microcephaly ; mitochondria ; nervous system ; palate ; peptide ; peripheral ; protein ; short stature ; stature ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.