TMEM248
Description
The TMEM248 (transmembrane protein 248) is a protein-coding gene located on chromosome 7.
TMEM248, also known as C7orf42, is a gene that in humans encodes the TMEM248 protein. This gene contains multiple transmembrane domains and is composed of seven exons. TMEM248 is predicted to be a component of the plasma membrane and be involved in vesicular trafficking. It has low tissue specificity, meaning it is ubiquitously expressed in tissues throughout the human body. Orthology analyses determined that TMEM248 is highly conserved, having homology with vertebrates and invertebrates. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.
== Gene == TMEM248 is located at chromosome 7 at location 7q11.21 with 37,327 base pairs, spanning from position 66,921,225 to 66,958,551. It has 7 exons and is located on the sense strand.
== Transcript ==
TMEM248 contains 7 exons, seen in Figure 1. A single gene can have multiple isoforms produced by alternative splicing.
TMEM248 is also known as C7orf42.
Associated Diseases
- Parkinson disease
- cholesteryl ester storage disease
- Matthew-Wood syndrome
- multiple intestinal atresia
- glycogen storage disease due to liver phosphorylase kinase deficiency
- African iron overload
- hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- progressive familial intrahepatic cholestasis type 1
- oculocerebrodental syndrome
- Shwachman-Diamond syndrome
