HGNC Approved Gene Symbol: MFAP4Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,383,444-19,387,189 (from NCBI)▼ Cloning and ExpressionZhao ...
HGNC Approved Gene Symbol: MFAP4
Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,383,444-19,387,189 (from NCBI)
▼ Cloning and Expression
Zhao et al. (1995) cloned a human cDNA, designated microfibrillar-associated protein-4 (MFAP4), encoding a deduced 225-amino acid protein with a fibrinogen-like domain. The N-terminus of the protein contains an RGD sequence that serves as the ligand motif for cell surface receptor integrin (see 192975). MFAP4 shares a high level of sequence identity with the partial sequence of a bovine 36-kD microfibril-associated glycoprotein identified by Kobayashi et al. (1994) and thought to be a Ca(2+)-dependent adhesive protein associated with elastin (ELN; 130160) microfibrils in the extracellular matrix. Northern blot analysis of human tissues revealed wide expression of MFAP4, with highest expression in heart, lung, ovary, and small intestine and lowest expression in peripheral blood leukocytes, liver, thymus, and brain.
▼ Gene Function
Zhao et al. (1995) suggested that MFAP4 is an extracellular matrix protein involved in cell adhesion or intercellular interactions.
Zhao et al. (1995) identified the MFAP4 gene within the region of chromosome 17p11.2 that is deleted in Smith-Magenis syndrome (SMS; 182290).
▼ Molecular Genetics
Zhao et al. (1995) demonstrated deletion of the MFAP4 gene in 30 of 31 SMS patients using either fluorescence in situ hybridization or PCR and Southern blot analysis of somatic cell hybrids retaining the del(17)(p11.2) chromosome typical of SMS.