short stature homeobox protein; pseudoautosomal homeobox-containing osteogenic protein; short stature homeobox-containing protein (SHOX PHOG)
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Function
- controls fundamental aspects of growth & development
Structure
- belongs to the paired homeobox family, Bicoid subfamily
- contains 1 homeobox DNA-binding domain
Compartment
Alternative splicing
named isoforms=2; SHOXA, SHOXB
Expression
- SHOXA is expressed in skeletal muscle, placenta, pancreas, heart & bone marrow fibroblasst
- SHOXB is expressed in bone marrow fibroblasts > kidney, skeletal muscle
- SHOXB is not expressed in brain, kidney, liver or lung
- highly expressed in osteogenic cells
- induced by retinoic acid & phorbol-12-myristate 13-acetate (PMA)
Pathology
- defects in SHOX are the cause of Leri-Weill dyschondrosteosis
- defects in SHOX are a cause
Genetics
- the gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X & Y chromosomes
Laboratory
- SHOX gene mutation
- see ARUP consutl[4]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O15266.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SHOX
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SHOXY
- ↑ 4.0 4.1 ARUP Consult: SHOX-Related Disorders https://arupconsult.com/ati/shox-related-disorders
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6473
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6473
- OMIM: https://mirror.omim.org/entry/127300
- OMIM: https://mirror.omim.org/entry/249700
- OMIM: https://mirror.omim.org/entry/300582
- OMIM: https://mirror.omim.org/entry/312865
- OMIM: https://mirror.omim.org/entry/400020
- UniProt: http://www.uniprot.org/uniprot/O15266.html