OFD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OFD1 wild-type allele is located in the vicinity of Xp22 and is approximately 35 kb in length. This allele, which encodes oral-facial-digital syndrome 1, may be involved in the mediation of embryonic development. Mutations in the gene are associated with both oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2.

**Synonyms:** - 71-7A - CXorf5 - Chromosome X Open Reading Frame 5 Gene - JBTS10 - MGC117039 - MGC117040 - Oral-Facial-Digital Syndrome 1 wt Allele - Retinitis Pigmentosa 23 (X-Linked Recessive) Gene - SGBS2