XB-FEAT-485213: Difference between revisions
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=lifr= | =lifr= | ||
This is the community wiki page for the gene ''lifr'' 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 ''lifr'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=nomenclature changes= | |||
05.13.19 | |||
Human name has changed for Entrez Gene: 3977. From LIF receptor alpha to LIF receptor subunit alpha | |||
=Summary from NCBI, Human gene= | |||
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause | |||
STUVE-WIEDEMANN SYNDROME; STWS, OMIM# 601559 [ also called Schwartz-Jampel syndrome type 2], a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018] | |||
Latest revision as of 07:04, 14 May 2019
lifr
This is the community wiki page for the gene lifr please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
05.13.19
Human name has changed for Entrez Gene: 3977. From LIF receptor alpha to LIF receptor subunit alpha
Summary from NCBI, Human gene
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause STUVE-WIEDEMANN SYNDROME; STWS, OMIM# 601559 [ also called Schwartz-Jampel syndrome type 2], a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]