1. Gene
  2. SLC23A1 - solute carrier family 23 member 1 Gene

SLC23A1 - solute carrier family 23 member 1 Gene

Homo sapiens

Also known as SVCT1; YSPL3; SLC23A2

Gene ID: 9963 | Gene type: protein coding

About SLC23A1

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:139,367,196-139,385,676 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues and 2 paralogues. Biased expression in small intestine (RPKM 24.6), kidney (RPKM 21.3) and 4 other tissues.

Summary

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SLC23A1 Products(2)

mRNA Protein Name
NM_005847.5 NP_005838.3 solute carrier family 23 member 1 isoform a
NM_152685.4 NP_689898.2 solute carrier family 23 member 1 isoform b
Protein Preferred Names Protein Names

solute carrier family 23 member 1

Na(+)/L-ascorbic acid transporter 1

Related Diseases

Diseases Alias
Hypoascorbemia

Scurvy

Ascorbic Acid Deficiency

Vitamin C Deficiency

Vitamin C, Inability To Synthesize

Deficiency Of Vitamin C

Scorbutus

Vitamin C

Aggressive Periodontitis

Juvenile Periodontitis

Periodontitis, Juvenile

Prepubertal Periodontitis

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Osmotic Diarrhea
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

Orthologs Information

Species Symbol Source ID
Felis catus SLC23A1 VGNC VGNC:65247
Rattus norvegicus SLC23A1 RGD RGD:619875
Canis familiaris SLC23A1 VGNC VGNC:46282
Macaca mulatta SLC23A1 VGNC VGNC:77423
Bos taurus SLC23A1 VGNC VGNC:34733
Mus musculus SLC23A1 MGD MGI:1341903