COL27A1 gene

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:

From NCBI Gene:

• Steel syndrome

From 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]

Cytogenetic Location: 9q32, which is the long (q) arm of chromosome 9 at position 32

Molecular Location: base pairs 114,154,271 to 114,312,516 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

• STLS