SLC7A13 - solute carrier family 7 member 13 Gene

Homo sapiens

Also known as AGT1; XAT2; AGT-1

Gene ID: 157724 | Gene type: protein coding

About SLC7A13

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:86,214,063-86,230,381 (from NCBI)

This gene has 3 transcripts (splice variants), 752 orthologues and 12 paralogues. Restricted expression toward kidney (RPKM 11.0).

Summary

Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in L-cystine transport; L-glutamate transmembrane transport; and aspartate transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A13 Products(1)

mRNA	Protein	Name
NM_138817.3	NP_620172.2	solute carrier family 7 member 13

SLC7A13 Protein Structure

AA_permease_2

0
100
200
300
400
470 a.a.

Protein Preferred Names

Protein Names

solute carrier family 7 member 13

X-amino acid transporter 2

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3	DEE3
Eiee3	Early Myoclonic Encephalopathy
Developmental And Epileptic Encephalopathy, 3	Early Infantile Epileptic Encephalopathy 3
Eme	Neonatal Epilepsy With Suppression-Burst Pattern
Encephalopathy, Epileptic, Early Infantile, Type 3

Retinitis Pigmentosa 68

RP68	Retinitis Pigmentosa, Type 68

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8	CMS8
Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects	Cmsppd
Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects	Congenital Myasthenic Syndrome Due To Agrin Deficiency
Myasthenic Syndrome, Congenital, Due To Agrin Deficiency	Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects
Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13326	SLC7A13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC7A13	MGD	MGI:1921337
Macaca mulatta	SLC7A13	VGNC	VGNC:84117
Rattus norvegicus	SLC7A13	RGD	RGD:1311633

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