Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 7

Alternative Names

  • SLC7A7
  • y(+)L-Type Amino Acid Transporter 1
  • y(+)LAT1
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OMIM Number

603593

NCBI Gene ID

9056

Uniprot ID

Q9UM01

Length

56,599 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Y+L amino acid transporter 1

Molecular Mass

55,991 Da

Amino Acid Count

511

Genomic Location

chr14:22,773,222-22,829,820

Gene Map Locus
14q11.2

Description

The SLC7A7 gene encodes a protein of 511 amino acids called y+L amino acid transporter 1 (y+LAT-1). This protein is involved in transporting lysine, arginine, and ornithine from the small intestines and kidneys to the rest of the body. The y+LAT-1 protein is the light subunit of the heterodimeric cationic amino acid transporter. This subunit is responsible for binding to the amino acids that are transported. It also plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine.

Defects in the y(+)LAT1 protein cause lysinuric protein intolerance (LPI), which is characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003982.4:c.1005C>AUnited Arab EmiratesNC_000014.9:g.22775534G>TLikely PathogenicLysinuric Protein IntoleranceNG_012851.2:g.59287C>A; NM_003982.4:c.1005C>A; NP_003973.3:p.Phe335Leu
NM_003982.4:c.1034C>GJordanNC_000014.9:g.22775505G>CLikely PathogenicLysinuric Protein IntoleranceNG_012851.2:g.59316C>G; NM_003982.4:c.1034C>G; NP_001119577.1:p.Pro345Arg1417051927
NM_003982.4:c.1185_1188del Tunisiachr14:22774413-22774416PathogenicPathogenicLysinuric Protein IntoleranceNG_012851.2:g.60407_60410del; NM_003982.4:c.1185_1188del ; NP_003973.3:p.Ser396fs38683380056352
NM_003982.4:c.499+1G>CUnited Arab EmiratesNC_000014.9:g.22812899C>GLikely PathogenicLysinuric Protein IntoleranceNG_012851.2:g.21922G>C; NM_003982.4:c.499+1G>C; NP_003973.3:p.?386833817
NM_003982.4:c.726G>AMoroccochr14:22778837PathogenicPathogenicLysinuric Protein IntoleranceNG_012851.2:g.55984G>A; NM_003982.4:c.726G>A; NP_003973.3:p.Trp242Ter1219086796214
NM_003982.4:c.999G>CUnited Arab EmiratesNC_000014.9:g.22775540C>GLikely PathogenicLysinuric Protein IntoleranceNG_012851.2:g.59281G>C; NM_003982.4:c.999G>C; NP_003973.3:p.Arg333Ser
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