FGF9/GAF

Function

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.

Involvement in disease

Multiple synostoses syndrome 3

SYNS3

A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Three molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the 30 kDa species which is uncleavable in the secretion step.

N-glycosylated.

Sequence similarities

Belongs to the heparin-binding growth factors family.

Tissue specificity

Glial cells.

Cellular localization

• Secreted

Alternative names

• Fibroblast growth factor 9
• FGF-9
• Glia-activating factor
• Heparin-binding growth factor 9
• GAF
• HBGF-9
• FGF9

Database links

• entrezGene:2254
• omim:600921
• swissprot:P31371

Target type

Proteins

Molecular weight

23441Da