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LHX4 LIM homeobox 4

Also known as: CPHD4

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. [provided by RefSeq, Dec 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Pituitary hormone deficiency, combined 4
MedGen: C2678408OMIM: 262700GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
1q25.2
Sequence:
Chromosome: 1; NC_000001.11 (180228372..180278982)
Total number of exons:
9

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