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TIMM44

Synonyms
TIM44
External resources
Summary
This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma.

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
73
Likely pathogenic
4,415
VUS
3,819
Likely benign
3,533
Benign
0

Patient phenotypes

Proportions of phenotypes among 4436 patients carring pathogenic or likely pathogenic variants on TIMM44 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.6%
Abnormality of the musculoskeletal system
26.5%
Abnormality of head or neck
21.8%
Abnormality of the eye
21.8%
Abnormality of the cardiovascular system
16%
Abnormality of the ear
14%
Growth abnormality
13.2%
Abnormality of the genitourinary system
10%
Abnormality of the integument
9.4%
Abnormality of limbs
8%
Abnormality of the digestive system
6.4%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the immune system
5.7%
Abnormality of the endocrine system
3.3%
Abnormality of the respiratory system
3%
Abnormality of prenatal development or birth
2.9%
Neoplasm
1.9%
Constitutional symptom
0.9%
Abnormality of the breast
0.5%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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