SLC10A7

Chr 4AR

solute carrier family 10 member 7

Also known as: C4orf13, P7, SSASKS

NCBI Gene: 84068 ENSG00000120519 UniProt: Q0GE19 OMIM: 611459

The protein functions as a symporter involved in glycosaminoglycan and glycoprotein biosynthesis and trafficking, which is essential for proper extracellular matrix formation and mineralization, and also regulates cellular calcium homeostasis. Mutations cause skeletal dysplasia with amelogenesis imperfecta, a disorder affecting both bone and tooth development with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation (pLI ~0, LOEUF = 1), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable symporter activity. Involved in bone development; heparin proteoglycan biosynthetic process; and intracellular calcium ion homeostasis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisMIM #618363

Clinical highlights

Gene-disease validity (ClinGen)

short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.00

LOEUF

LOF

Mechanism· G2P