Home > Gene Browser > CMA1

CMA1

Synonyms
CYH, MCT1, chymase
External resources
Summary
This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
5
Likely pathogenic
352
VUS
1,448
Likely benign
1,470
Benign
0

Patient Phenotypes

Proportions of phenotypes among 356 patients carrying pathogenic or likely pathogenic variants on CMA1 gene are displayed below. The following symptoms were found in patients with a variant in CMA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.2%
Abnormality of the musculoskeletal system
26.4%
Abnormality of head or neck
21.9%
Abnormality of the cardiovascular system
19.7%
Abnormality of the eye
18.8%
Abnormality of the ear
17.1%
Growth abnormality
12.1%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the genitourinary system
9.8%
Abnormality of the integument
9.6%
Abnormality of limbs
8.1%
Abnormality of the digestive system
7.6%
Abnormality of blood and blood forming tissues
3.9%
Abnormality of the immune system
3.9%
Abnormality of the respiratory system
3.9%
Abnormality of prenatal development or birth
3.4%
Abnormality of the endocrine system
3.1%
Neoplasm
1.4%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0.6%
Abnormality of the breast
0.6%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.