Microfibrils are an important component of the extracellular matrix of many tissues and can either associate with or without elastin. Several microfibril associated proteins (MFAPs) have been cloned, including MFAP1, MFAP3 and MFAP4. The MFAP1 and MFAP3 genes are localized near the fibrillin genes FBN1 and FBN2, respectively. Mutations in FBN1 are linked to Marfan syndrome. Mutations in FBN2 have been linked to congenital contractural arachnodactyly. This suggests roles for MFAP1 and MFAP3 in heritable diseases affecting microfibrils. Deletion of MFAP4 was found in 30 of 31 patients with Smith-Magenis syndrome (SMS), a clinically recognizable multiple congenital anomaly/mental retardation syndrome.
Function:
Component of the elastin-associated microfibrils.
Subcellular Location:
Secreted, extracellular space, extracellular matrix.
Similarity:
Belongs to the MFAP1 family.
SWISS:
P55081
Gene ID:
4236
Database links:
Entrez Gene: 4236 Human
Entrez Gene: 100034361 Mouse
Entrez Gene: 67532 Mouse
Omim: 600215 Human
SwissProt: 5EA98 Cow
SwissProt: P55081 Human
SwissProt: Q9CQU1 Mouse
Unigene: 61418 Human
Unigene: 270393 Mouse
Unigene: 88764 Mouse
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Sample: Lymph node (Mouse) Lysate at 40 ug
Primary: Anti-MFAP1 (SL7810R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 52 kD
Observed band size: 52 kD
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