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OFD1 OFD1 centriole and centriolar satellite protein

Gene ID: 8481, updated on 5-Jan-2022
Gene type: protein coding
Also known as: RP23; 71-7A; SGBS2; CXorf5; JBTS10

Summary

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-04-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp22.2
Sequence:
Chromosome: X; NC_000023.11 (13734726..13773978)
Total number of exons:
27

Links

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