Recombinant Human LIM/homeobox protein Lhx4 (LHX4)

1. LHX4 Mutation is associated with Pituitary Deficits. PMID: 27820671
2. The study identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R. PMID: 25955177
3. A novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. PMID: 25871839
4. we found that LHX4 upregulated beta-catenin levels in human colorectal cancer cell lines PMID: 25034524
5. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
6. This study is the first to describe, a gradual loss of ACTH in a patient carrying an LHX4 mutation. PMID: 23029363
7. Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development. PMID: 22232309
8. data indicate that LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis, suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications PMID: 21965270
9. A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome. PMID: 21270112
10. Heterozygous splice site mutations within LHX4 are associated with combined pituitary hormone deficiency and isolated growth hormone deficiency... small sella turcica...persistent craniopharyngeal canal...ectopic posterior pituitary... P. 207 PMID: 14714741
11. LHX4 expression is transient, and, at 6 weeks of development, is stronger at the caudal than at the cervical level. PMID: 15567726
12. Findings are consistent with the existence of LHX4-driven pathway leading to expression of GH through transcriptional activation of POU1F1. They argue against dominant-negative effect of mutant LHX4 proteins over normal LHX4. PMID: 15998782
13. endogenous LHX4 binds to the CGA promoter and that LHX4-mediated CGA activation is enhanced by the SS18-SSX protein PMID: 17667940
14. We conclude Sp1 directly regulates Lhx4 gene expression. PMID: 18053794
15. LHX4 mutations are a relatively rare cause of combined pituitary hormone deficiency. PMID: 18073311
16. three new exonic LHX4 allelic variants with at least one being responsible for congenital hypopituitarism. PMID: 18445675
17. In mice, a similar protein plays a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. PMID: 7913017
18. germline mutations; phenotype characterized by short stature and by pituitary, hindbrain, and skull abnormalities PMID: 11567216

Show More

Hide All

HGNC: 21734

OMIM: 262700

KEGG: hsa:89884

STRING: 9606.ENSP00000263726

UniGene: Hs.658487