Oral-facial-digital syndrome 1 protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''OFD1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Human chromosomal region Xp22.3-p21.3 comprises the area between the
pseudoautosomal
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes.
The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) are inherited ...
boundary and the
Duchenne muscular dystrophy gene (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.
upplied by OMIMref name="entrez"/>
See also
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Orofaciodigital syndrome 1
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of t ...
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Simpson–Golabi–Behmel syndrome
Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities.
The syndrome is inherited in an X-linked recessive fashion, where males express the phenoty ...
References
External links
GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I
Further reading
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