POC1A POC1 centriolar protein A

Gene ID: 25886, updated on 2-Nov-2024
Gene type: protein coding
Also known as: PIX2; SOFT; WDR51A

Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MedGen: C3542022OMIM: 614813GeneReviews: Not available	See labs

Genomic context

Location:: 3p21.2

Sequence:: Chromosome: 3; NC_000003.12 (52075226..52154423, complement)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for POC1A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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