Website Search
ID 15930

What is Achondroplasia?

Description:
The protein encoded by the FGFR3 gene usually receives and transmits signals that stimulate cell maturation. Mutations in this gene cause a dysfunctional protein to be produced that causes a disruption to growth, known as achondroplasia or dwarfism.
Keywords:
what is achondroplasia,cell maturation,fgfr3 gene,chromosome 4,dwarfism,mutations,disruption,protein,signals
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

Related content:

15959. What is Neurofibromatosis 1?
NF1 is a large gene that encodes three slightly different neurofibromin proteins, found in nerve and muscle tissue
15960. What causes Neurofibromatosis 1?
NF1 is a large gene that encodes three slightly different neurofibromin proteins, found in nerve and muscle tissues.
15967. What is sickle cell?
Mutations in the HBB gene on chromosome 11 can cause sickle cell.
15968. What causes sickle cell?
Mutations in the HBB gene on chromosome 11 can cause sickle cell.
15399. Chromosome 4: Huntington's Disease, Matt Ridley
Matt Ridley talks about chromosome 4, Huntington's Disease.
15903. Neurofibromatosis 1
NF1 is a large gene that encodes three slightly different neurofibromin proteins, found in nerve and muscle tissues.
1843. PTPN11/A0020
Protein tyrosine phosphatase non-receptor type 11 (PTPN11), also known as A0020, is a 593 amino acid protein found on human chromosome 12.
1390. Genes for Learning and Memory
An interactive chromosome map of the genes and loci associated with learning and memory.
868. Candidate Genes for Schizophrenia
An interactive chromosome map of the genes and loci associated with schizophrenia.
1369. NLGN4 Gene
Mutations in two members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and Asperger syndrome.
Cold Spring Harbor Laboratory
CSHL HomeAbout CSHLResearchEducationPublic EventsNewsstandPartner With UsGiving