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]
Function:
Could be involved in calcium-dependent cell adhesion or intercellular interactions.
Subcellular Location:
Secreted; extracellular space; extracellular matrix.
DISEASE:
MFAP4 is deleted in the Smith-Magenis syndrome (SMS) [MIM:182290].
Similarity:
Contains 1 fibrinogen SLCterminal domain.
SWISS:
P55083
Gene ID:
4239
Database links:
Entrez Gene: 4239 Human
Entrez Gene: 286766 Cow
Entrez Gene: 489531 Dog
Entrez Gene: 76293 Mouse
Entrez Gene: 287382 Rat
Omim: 600596 Human
SwissProt: P55918 Cow
SwissProt: P55083 Human
SwissProt: Q9D1H9 Mouse
Unigene: 296049 Human
Unigene: 272278 Mouse
|
|