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B9D1 B9 domain containing 1

Also known as: B9; MKS9; EPPB9; MKSR1; JBTS27

Summary

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]

Associated conditions

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DescriptionTests
JOUBERT SYNDROME 27
MedGen: CN238517OMIM: 617120GeneReviews: Not available
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Meckel syndrome, type 9
MedGen: C3280155OMIM: 614209GeneReviews: Not available
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Genomic context

Location:
17p11.2
Sequence:
Chromosome: 17; NC_000017.11 (19335372..19378193, complement)
Total number of exons:
13

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