Gene: LHX4

Alternate names for this Gene: CPHD4

Gene Summary: This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: LIM homeobox 4

Type of Gene: protein-coding

rs4652492 in LHX4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10913956 in LHX4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs121912642 in LHX4 gene and PITUITARY HORMONE DEFICIENCY, COMBINED, 4 PMID 18073311 2008 Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

PMID 17527005 2007 A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.