GO curators for mouse genes have assigned the following annotations to the gene product of Dhtkd1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 9, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred, based on genetic interactions, that the gene product of Dhtkd1
participates in the following biological processes:
Annotations directly to for the gene Dhtkd1 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.
Nagamachi A et al. (2013) Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell, 24:305-17. (PubMed:24029230)