MFSD1

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Description

The MFSD1 (major facilitator superfamily domain containing 1) is a protein-coding gene located on chromosome 3.

MFSD1 (Major facilitator superfamily domain containing 1, SMAP) is a protein belonging to the MFS Pfam clan. It is an Atypical solute carrier. It belongs to the major facilitator superfamily MFS Pfam Clan. MFSD1 has been identified in neuronal plasma membranes and lysosomes. HGNC:25874 MFSD1 belongs to AMTF6.

MFSD1 is a lysosomal transporter critical for liver homeostasis. It is required for the stability and lysosomal localization of GLMP.

MFSD1 is also known as Minerva, SMAP4.

Associated Diseases

• progressive familial intrahepatic cholestasis
• sideroblastic anemia 3
• transient infantile hypertriglyceridemia and hepatosteatosis
• neonatal hemochromatosis
• galactose epimerase deficiency
• proteasome-associated autoinflammatory syndrome 5
• cholesteryl ester storage disease
• nanophthalmia
• atransferrinemia
• cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
• nanophthalmos 2
• pediatric hepatocellular carcinoma