Details of MTAP gene in Homo sapiens

IDs
Link outs	Gene Name	Alias	Uniprot ID	SwissProt ID	NCBI gene ID	ENSEMBL ID	Description	Source
	MTAP	MSAP	Q13126	MTAP_HUMAN	4507	I2G7M7	I2G7M8	Q9H010

Disease
Disease	OMIM id
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) [MIM:112250]: An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly	with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibr
Note=Loss of MTAP activity may play a role in human cancer. MTAP loss has been reported in a number of cancers	malignant melanoma and gastric cancer.

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Orthologs in other species
M. musculus	D. melonogaster	C. elegans	S. purpuratus