SOBP

Chr 6

sine oculis binding protein homolog

Also known as: JXC1, MRAMS

NCBI Gene: 55084 ENSG00000112320 UniProt: A7XYQ1

This nuclear zinc finger protein is involved in cochlear development and is highly constrained against loss-of-function variation (pLI = 1.0, LOEUF = 0.13). Autosomal recessive mutations cause intellectual disability with distinctive craniofacial features including anterior maxillary protrusion and strabismus.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImpaired intellectual development, anterior maxillary protrusion, and strabismus

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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