LHX4

LIM homeobox 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2010]

From UniProt:

May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Pituitary hormone deficiency, combined 4

From UniProt:

A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation t(1;14)(q25;q32) with IGHG1.

Pituitary hormone deficiency, combined, 4 (CPHD4): Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. [MIM:262700]

Cytogenetic Location: 1q25.2, which is the long (q) arm of chromosome 1 at position 25.2

Molecular Location: base pairs 180,228,372 to 180,278,982 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q25.2, which is the long (q) arm of chromosome 1 at position 25.2