SMAP1

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Description

The SMAP1 (small ArfGAP 1) is a protein-coding gene located on chromosome 6.

Stromal membrane-associated protein 1 is a protein that in humans is encoded by the SMAP1 gene. The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms.

SMAP1 is also known as SMAP-1.

Associated Diseases

• X-linked sideroblastic anemia 1
• alpha-thalassemia-myelodysplastic syndrome
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• dehydrated hereditary stomatocytosis
• primary familial polycythemia due to EPO receptor mutation
• erythroleukemia, familial, susceptibility to
• severe congenital hypochromic anemia with ringed sideroblasts
• hemoglobin D disease
• gamma-glutamylcysteine synthetase deficiency
• dominant beta-thalassemia
• hereditary elliptocytosis
• hemoglobin E disease