PHC1 Chromosome 12

Polyhomeotic homolog 1

2 variants 2 Health Risk

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What This Gene Does

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Sterile alpha motif domain containing

Locus Type

gene with protein product

Location

12p13.31

Ensembl

ENSG00000111752

Associated Conditions (5)

Microcephaly 11

primary

autosomal recessive

Primary microcephaly

Intellectual disability

Key Variants

RS2137054010

Pathogenic

Microcephaly 11, primary, autosomal recessive

Health Risk

RS587777036

Pathogenic/Likely pathogenic

Microcephaly 11, primary, autosomal recessive

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2137054010	Health Risk	Pathogenic	Microcephaly 11, primary, autosomal recessive
RS587777036	Health Risk	Pathogenic/Likely pathogenic	Microcephaly 11, primary, autosomal recessive