SLC45A1
Homo sapiens
Gene Name: solute carrier family 45 member 1
Aliases: DNB5
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare single gene variant-Syndromic
Aliases: DNB5
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 12
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Homozygous missense variants in the SLC45A1 gene that resulted in reduced intracellular glucose transport activity were identified in two unrelated consanguineous families with affected individuals presented with moderate-to-severe intellectual disability, epilepsy, and dysmorphic features (Srour et al., 2017); one of the four affected individuals with a homozygous SLC45A1 missense variant was diagnosed with ASD, while another affected individual presented with autistic traits.
Molecular Function
Mediates glucose uptake along the pH gradient.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
ID, epilepsy/seizures
ASD or autistic features
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
DD, ID, epilepsy/seizures
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN905R001a
missense_variant
c.629C>T
p.Ala210Val
Familial
Both parents
Multiplex
GEN905R002a
missense_variant
c.526C>T
p.Arg176Trp
Familial
Both parents
Multiplex
GEN905R003a
missense_variant
c.269T>C
p.Ile90Thr
Familial
Both parents
Simplex
Common
No Common Variants Available