Treacle protein is a protein that in humans is encoded by the TCOF1 gene.
Tyrosine-protein kinase transmembrane receptor ROR2, also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9. This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.
Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
Filamin B, beta (FLNB), also known as Filamin B, beta , is a cytoplasmic protein which in humans is encoded by the FLNB gene.
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Fermitin family homolog 1 is a protein that in humans is encoded by the FERMT1 gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.
Myosin-8 is a protein that in humans is encoded by the MYH8 gene.
Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.
Arylsulfatase L is an enzyme that, in humans, is encoded by the ARSL gene.
Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.
In molecular biology, the Dymeclin protein family is a family of proteins which includes human Dymeclin. Dymeclin contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 amino acids long and present in plants and animals. In humans, mutations in the gene coding for this protein give rise to a disorder called Dyggve-Melchior-Clausen syndrome, which is an autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia, postnatal onset microcephaly and intellectual disability.
