CALR3

calreticulin 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

From UniProt:

During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Familial hypertrophic cardiomyopathy 19

From UniProt:

Cardiomyopathy, familial hypertrophic 19 (CMH19): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. [MIM:613875]

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11

Molecular Location: base pairs 16,479,057 to 16,496,192 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11
  • CMH19
  • CRT2
  • CT93