XB-FEAT-1012536: Difference between revisions
imported>Xenbase gene generator No edit summary |
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This is the community wiki page for the gene ''efemp1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''efemp1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=nomenclature changes= | |||
10/17/17 | |||
Human name has changed for Entrez Gene: 2202. From EGF containing fibulin like extracellular matrix protein 1 to EGF containing fibulin extracellular matrix protein 1 | |||
=summary from NCBI= | |||
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] | |||
Latest revision as of 07:30, 17 October 2017
efemp1
This is the community wiki page for the gene efemp1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
10/17/17
Human name has changed for Entrez Gene: 2202. From EGF containing fibulin like extracellular matrix protein 1 to EGF containing fibulin extracellular matrix protein 1
summary from NCBI
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]