SP7 gene

Sp7 transcription factor

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

From NCBI Gene:

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

From UniProt:

Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences.

From NCBI Gene:

  • Osteogenesis imperfecta type 11

From UniProt:

Osteogenesis imperfecta 12 (OI12): A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. [MIM:613849]

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13

Molecular Location: base pairs 53,326,575 to 53,344,793 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13
  • OI11
  • OI12
  • osterix
  • OSX