Major Facilitator Superfamily Domain-Containing Protein 2A

Alternative Names

MFSD2A

Length

14,812 bases

No. of Exons

No. of isoforms

Protein Name

Sodium-dependent lysophosphatidylcholine symporter 1

Molecular Mass

60170 Da

Amino Acid Count

543

Genomic Location

chr1:39,955,144-39,969,955

Gene Map Locus

1p34.2

Description

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_032793.5:c.476C>T	Saudi Arabia	NC_000001.11:g.39965333C>T	Pathogenic	Pathogenic	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities	NG_053084.1:g.15222C>T; NM_032793.5:c.476C>T; NP_116182.2:p.Thr159Met	1057517688	372260

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=mfsd2a

Contributors

Sayeeda Hana: 20.11.2021

Edit History

Sayeeda Hana: 20.11.2021

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