SLC45A1

Chr 1AR

solute carrier family 45 member 1

Also known as: DNB5, IDDNPF, PAST-A

NCBI Gene: 50651 ENSG00000162426 UniProt: Q9Y2W3 OMIM: 605763

The encoded protein functions as a proton-associated glucose transporter in the brain. Biallelic mutations cause autosomal recessive intellectual developmental disorder with neuropsychiatric features. The gene shows tolerance to loss-of-function variation in the general population (low constraint), which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 0.741 OMIM phenotype

Clinical Summary— SLC45A1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.74LOEUF

pLI 0.000

Z-score 2.56

OE 0.46 (0.29–0.74)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.47Z-score

OE missense 0.82 (0.75–0.89)

408 obs / 500.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.46 (0.29–0.74)

0≤0.351.4

Missense OE?0.82 (0.75–0.89)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 12 / 26.1Missense obs/exp: 408 / 500.3Syn Z: -0.32

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongSLC45A1-related intellectual disability and epilepsyOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.75top 25%

GOF

0.6150th %ile

LOF

0.3551th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.