Solute Carrier Family 45, Member 1

Alternative Names

SLC45A1

Length

26,054 bases

No. of Exons

No. of isoforms

Protein Name

Proton-associated sugar transporter A

Molecular Mass

84,541Da

Amino Acid Count

782

Genomic Location

chr1:8,318,113-8,344,166

Gene Map Locus

1p36.23

Description

SLC45A1 gene encodes a protein belonging to the glycoside-pentoside-hexuronide cation symporter transporter family. While the strongest expression of this gene is seen in the brain, it is also expressed in the adult heart, muscle and kidney as well as the fetal brain, kidney and lung. SLC45A1 protein is an integral component of the membrane and due to its symporter activity, it is involved in transmembrane carbohydrate transport. Specifically, the SLC45A1 protein is believed to mediate the uptake of glucose along the pH gradient.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001379614.1:c.526C>T	United Arab Emirates	NC_000001.11:g.8325853C>T	Uncertain Significance	Likely Pathogenic	Intellectual Developmental Disorder with Neuropsychiatric Features	NG_034025.1:g.12769C>T; NM_001379614.1:c.526C>T; NP_001366543.1:p.Arg176Trp	781036625	428599
NM_001379614.1:c.629C>T	Palestine	NC_000001.11:g.8325956C>T	Pathogenic	Likely Pathogenic	Intellectual Developmental Disorder with Neuropsychiatric Features	NG_034025.1:g.12872C>T; NM_001379614.1:c.629C>T; NP_001366543.1:p.Ala210Val	150539474	428598

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Other Reports

Saudi Arabia

Anazi et al. (2016) examined 337 Intellectual Disability (ID) patients and found the diagnostic yield of genomic tools to be higher than standard clinical evaluations (58% vs 16%). In a 5-year old girl suffering from global developmental delay, hypotonia, bilateral strabismus, subtle dysmorphism and cerebellar hypoplasia with Dandy-Walker malformation, exome sequencing helped uncover a homozygous c.269T>C (p.Ile90Thr) mutation in the SLC45A1 gene. The gene encoded a solute carrier protein that is enriched in the brain and the identified amino acid change could affect ligand interactions.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1

Contributors

Asha Deepthi: 25.07.2021
Sayeeda Hana: 06.02.2017

Edit History

Asha Deepthi: 25.07.2021
Pratibha Nair: 21.06.2017

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