1. Gene
  2. SLC5A6 - solute carrier family 5 member 6 Gene

SLC5A6 - solute carrier family 5 member 6 Gene

Homo sapiens

Also known as SMVT; COMNB; NERIB; SMVTD

Gene ID: 8884 | Gene type: protein coding

About SLC5A6

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,199,587-27,212,787 (from NCBI)

This gene has 18 transcripts (splice variants), 274 orthologues, 11 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 17.5), testis (RPKM 16.1) and 24 other tissues.

Summary

Enables biotin transmembrane transporter activity and pantothenate transmembrane transporter activity. Involved in anion transmembrane transport and transport across blood-brain barrier. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC5A6 Products(1)

mRNA Protein Name
NM_021095.4 NP_066918.2 sodium-dependent multivitamin transporter

SLC5A6 Protein Structure

SSF

SSF: Sodium:solute symporter family (61 - 463)

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  • 635 a.a.
Protein Preferred Names Protein Names

sodium-dependent multivitamin transporter

Na(+)-dependent multivitamin transporter

Related Diseases

Diseases Alias
Sodium-Dependent Multivitamin Transporter Deficiency

Neurodegeneration, Infantile-Onset, Biotin-Responsive

Smvt Deficiency

NERIB

SMVTD

Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive

COMNB

Biotin Deficiency

Biotin Deficiency Disease

B7 Deficiency

Biotan Vitamin Deficiency

Purulent Acute Otitis Media

Acute Suppurative Otitis Media

Acute Or Subacute Suppurative Otitis Media

Acute Or Subacute Purulent Otitis Media

Neurodegeneration With Brain Iron Accumulation 6

NBIA6

Copan

Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation

Coasy Protein-Associated Neurodegeneration

Neurodegeneration, With Brain Iron Accumulation, Type 6

Holocarboxylase Synthetase Deficiency

HLCS DEFICIENCY

Early-Onset Multiple Carboxylase Deficiency

Biotin- Ligase Deficiency

Neonatal Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Neonatal Form

Multiple Carboxylase Deficiency, Early Onset

Multiple Carboxylase Deficiency - Neonatal Onset

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Combined Carboxylase Deficiency

Infantile Multiple Carboxylase Deficiency

Biotin-Responsive Mcd

Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Mcd

Mcd Neonatal Form

Herpes Simplex Virus Keratitis

Dendritic Keratitis

Keratitis, Dendritic

Keratitis, Herpetic

Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease

Basal Ganglia Disease, Biotin-Responsive

THMD2

Bbgd

Btbgd

Encephalopathy, Thiamine-Responsive

Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

Thiamine-Responsive Encephalopathy

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency

BTD DEFICIENCY

Multiple Carboxylase Deficiency, Late-Onset

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Biotin Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Deficiency Of Biotinidase

Biot

Carboxylase Deficiency, Multiple, Late-Onset

Late-Onset Mcd

Mcd Juvenile Form

Biotin Deficiency Disease

Multiple Carboxylase Deficiency

Mcd

Holocarboxylase Synthetase Deficiency

Beriberi

Thiamine Deficiency

Vitamin B1 Deficiency

Aneurin Deficiency

Thiamine Vitamin Deficiency

Beriberi Nos

Beriberi Due To Vitamin B1 Deficiency

Beriberi Due To Thiamine Vitamin Deficiency

Kakkè

Placental Choriocarcinoma

Choriocarcinoma Of The Placenta

Thiamine Deficiency Disease
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

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
Macaca mulatta SLC5A6 VGNC VGNC:77614
Felis catus SLC5A6 VGNC VGNC:65404
Bos taurus SLC5A6 VGNC VGNC:34909
Rattus norvegicus SLC5A6 RGD RGD:69648
Mus musculus SLC5A6 MGD MGI:2660847
Canis familiaris SLC5A6 VGNC VGNC:46449