Aliases for CSHL1 Gene
External Ids for CSHL1 Gene
Previous HGNC Symbols for CSHL1 Gene
Previous GeneCards Identifiers for CSHL1 Gene
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for CSHL1 Gene
CSHL1 (Chorionic Somatomammotropin Hormone Like 1) is a Protein Coding gene. Diseases associated with CSHL1 include Isolated Growth Hormone Deficiency and Isolated Growth Hormone Deficiency, Type Ia. Among its related pathways are Growth hormone receptor signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is CSH2.
UniProtKB/Swiss-Prot Summary for CSHL1 Gene
May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation.