rs201356862
This variant is located in the LHX3 gene.
▶ClinVar annotation
not provided; Non-acquired combined pituitary hormone deficiency with spine abnormalities
View on ClinVar →About LHX3
This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
View all LHX3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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