PTCH1
Encyclopedia
Protein patched homolog 1 is a protein
that is the member of the Patched
family and in humans is encoded by the PTCH1 gene
.
gene family and is the receptor for sonic hedgehog
, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor.
, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.
Mutations in PTCH1 have also been found in holoprosencephaly
patients. Some of these patients present cleft lip and palate among the holoprosencephaly
features and missense variants in PTCH1 were also found in a sequencing screening of non syndromic cleft lip and palate patients. In addition association between SNPs in or near PTCH1 have been found to be associated with non syndromic cleft lip and palate.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that is the member of the Patched
Patched
Patched is a conserved 12-pass transmembrane protein receptor that plays an obligate negative regulatory role in the Hedgehog signaling pathway in insects and vertebrates. The original mutations in the ptc gene were discovered in the fruit fly Drosophila melanogaster by 1995 Nobel Laureates Eric F...
family and in humans is encoded by the PTCH1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
PTCH1 is a member of the patchedPatched
Patched is a conserved 12-pass transmembrane protein receptor that plays an obligate negative regulatory role in the Hedgehog signaling pathway in insects and vertebrates. The original mutations in the ptc gene were discovered in the fruit fly Drosophila melanogaster by 1995 Nobel Laureates Eric F...
gene family and is the receptor for sonic hedgehog
Sonic hedgehog
Sonic hedgehog homolog is one of three proteins in the mammalian signaling pathway family called hedgehog, the others being desert hedgehog and Indian hedgehog . SHH is the best studied ligand of the hedgehog signaling pathway. It plays a key role in regulating vertebrate organogenesis, such as...
, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor.
Clinical significance
Mutations of this gene have been associated with nevoid basal cell carcinoma syndromeNevoid basal cell carcinoma syndrome
Nevoid basal cell carcinoma syndrome , also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine...
, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.
Mutations in PTCH1 have also been found in holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
patients. Some of these patients present cleft lip and palate among the holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
features and missense variants in PTCH1 were also found in a sequencing screening of non syndromic cleft lip and palate patients. In addition association between SNPs in or near PTCH1 have been found to be associated with non syndromic cleft lip and palate.