The Function of COL27A1
Plays a role during the calcification of cartilage and the transition of cartilage to bone.
Protein names
Recommended name:
Collagen alpha-1Short name:
XXVII- RS2839874 (COL27A1) ??
- RS7868992 (COL27A1) ??
- RS946053 (COL27A1) ??
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Top Gene-Substance Interactions
Substances That Increase COL27A1
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Substances That Decrease COL27A1
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Advanced Summary
From NCBI Gene: Steel syndromeFrom UniProt: Steel syndrome (STLS): A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. [MIM:615155]
From NCBI Gene: This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] From UniProt: Plays a role during the calcification of cartilage and the transition of cartilage to bone.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Developmental stage:
Detected at E67 in the primary ossification center and is tightly restricted to the pericellular region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At fetal 20-week highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around cells in the resting and proliferative zone of the cartilaginous plate, but the intense detection occurred deep in the hypertrophic zone near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this zone it is also closely situated around hypertrophic chondrocytes.