Aliases for MFAP4 Gene
External Ids for MFAP4 Gene
Previous GeneCards Identifiers for MFAP4 Gene
This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
GeneCards Summary for MFAP4 Gene
MFAP4 (Microfibrillar Associated Protein 4) is a Protein Coding gene. Diseases associated with MFAP4 include Smith-Magenis Syndrome and Specific Developmental Disorder. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. An important paralog of this gene is FIBCD1.
UniProtKB/Swiss-Prot for MFAP4 Gene
Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).