Synonyms:B9 domain containing 1, B9, B9D1, ENTREZ:27077, EPPB9, HGNC:24123, JBTS27, MIM:614144, MKS9, MKSR-1, MKSR1, NM_001243473, NM_001243475, NM_001321214, NM_001321215, NM_001321216, NM_001321217, NM_001321218, NM_001321219, NM_001330149, NM_001368769, NM_015681, NP_001230402, NP_001308143, NP_001308144, NP_001308145, NP_001308146, NP_001308147, NP_001308148, NP_001317078, NP_001355698, NP_056496, XM_005256610, XP_005256667
Omim:OMIM:614144
Id:ENSG00000108641
Hgnc:HGNC:24123
Description:B9 domain containing 1
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]